Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the nervous system (HP:0000707)

Parent Node:
Abnormal nervous system physiology (HP:0012638)

..Starting node
..Neurodevelopmental abnormality (HP:0012759)

Term ID:

12759

Name:

Neurodevelopmental abnormality

Synonym:

Definition:

A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.

Comments:

Reference:

HP:0012759

Genes and Diseases:

Child Nodes:

........

Intellectual disability (HP:0001249)

................... HP:0001256 Intellectual disability, mild
................... HP:0002187 Intellectual disability, profound
................... HP:0002342 Intellectual disability, moderate
................... HP:0006887 Intellectual disability, progressive
................... HP:0006889 Intellectual disability, borderline
................... HP:0010864 Intellectual disability, severe

........

Specific learning disability (HP:0001328)

................... HP:0002442 Dyscalculia
................... HP:0010522 Dyslexia
................... HP:0010794 Impaired visuospatial constructive cognition

........

Developmental regression (HP:0002376)

........

Developmental stagnation (HP:0007281)

................... HP:0006834 Developmental stagnation at onset of seizures

........

Neurodevelopmental delay (HP:0012758)

................... HP:0000750 Delayed speech and language development
................... HP:0001263 Global developmental delay
................... HP:0001270 Motor delay
................... HP:0012434 Delayed social development

Sister Nodes:

Abnormal brain positron emission tomography (HP:0012657)

Abnormal central motor function (HP:0011442)

Abnormal central sensory function (HP:0011730)

Abnormal hypothalamus physiology (HP:0012285)

Abnormal metabolic brain imaging by MRS (HP:0012705)

Abnormal nervous system electrophysiology (HP:0001311)

Abnormal synaptic transmission (HP:0012535)

Abnormality of higher mental function (HP:0011446)

Abnormality of intracranial pressure (HP:0012640)

Abnormality of movement (HP:0100022)

Abnormality of pineal physiology (HP:0012688)

Abnormality of taste sensation (HP:0000223)

Abnormality of the sense of smell (HP:0004408)

Behavioral abnormality (HP:0000708)

Bulbar palsy (HP:0001283)

Bulbar signs (HP:0002483)

Cataplexy (HP:0002524)

Dysphagia (HP:0002015)

Easy fatigability (HP:0003388)

Encephalopathy (HP:0001298)

Headache (HP:0002315)

Hypocalcemic tetany (HP:0003472)

Pseudobulbar signs (HP:0002200)

Seizure (HP:0001250)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACAN CL E G H	176	319	ORPHA:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			530
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCKDK CL E G H	10295	16902	OMIM:614923	Branched-Chain ketoacid dehydrogenase kinase deficiency			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040281 - Very frequent		32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome			405
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome			227
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1			225
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:609579	Familial scaphocephaly syndrome, Mcgillivray type			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLI1 CL E G H	2313	3749	ORPHA:851	Paris-Trousseau thrombocytopenia			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1			128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B10 CL E G H	3028	4800	ORPHA:85295	HSD10 disease, atypical type			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4			130
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7			528
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1			528
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5			321
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14			321
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital			114
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1			155
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			112
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity			183
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK2 CL E G H	4915	8032	ORPHA:3451	Infantile spasms syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1			231
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9			225
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHACTR1 CL E G H	221692	20990	ORPHA:3451	Infantile spasms syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGA CL E G H	5277	8957	ORPHA:3451	Infantile spasms syndrome			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCB1 CL E G H	23236	15917	ORPHA:3451	Infantile spasms syndrome			119
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q			759
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent		49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN2A CL E G H	6326	10588	ORPHA:3451	Infantile spasms syndrome			427
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			318
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIK1 CL E G H	150094	11142	ORPHA:3451	Infantile spasms syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA			96
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTAN1 CL E G H	6709	11273	ORPHA:3451	Infantile spasms syndrome			416
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ST3GAL3 CL E G H	6487	10866	ORPHA:3451	Infantile spasms syndrome			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDP2 CL E G H	51567	17768	ORPHA:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3			155
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor			1090
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor			2738
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR45 CL E G H	11152	28912	ORPHA:3451	Infantile spasms syndrome			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome			4
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0012759	HP:0012759	Neurodevelopmental abnormality	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0012759	HP:0001249	Intellectual disability	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0012759	HP:0002376	Developmental regression	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0012759	HP:0001249	Intellectual disability	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012759	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0012759	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0012759	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0012759	HP:0001249	Intellectual disability	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0001249	Intellectual disability	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0012759	HP:0001249	Intellectual disability	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012759	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0012759	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0012759	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0012759	HP:0001249	Intellectual disability	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0012759	HP:0001249	Intellectual disability	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0012759	HP:0001249	Intellectual disability	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0012759	HP:0001328	Specific learning disability	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040282 - Frequent		135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0012759	HP:0001249	Intellectual disability	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0001249	Intellectual disability	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012759	HP:0007281	Developmental stagnation	1	ACAN CL E G H	176	319	ORPHA:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	HP:0040282 - Frequent		34
HP:0012759	HP:0001249	Intellectual disability	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.		91
HP:0012759	HP:0001249	Intellectual disability	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6			11
HP:0012759	HP:0001249	Intellectual disability	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0012759	HP:0001249	Intellectual disability	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0012759	HP:0002376	Developmental regression	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0012759	HP:0007281	Developmental stagnation	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0012759	HP:0001249	Intellectual disability	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0012759	HP:0001249	Intellectual disability	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0012759	HP:0001249	Intellectual disability	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012759	HP:0002376	Developmental regression	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0012759	HP:0002376	Developmental regression	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012759	HP:0001249	Intellectual disability	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0012759	HP:0001249	Intellectual disability	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0012759	HP:0001249	Intellectual disability	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012759	HP:0001249	Intellectual disability	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0012759	HP:0001249	Intellectual disability	1	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		94
HP:0012759	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0001328	Specific learning disability	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012759	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0012759	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0012759	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0012759	HP:0001249	Intellectual disability	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0012759	HP:0001328	Specific learning disability	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012759	HP:0001249	Intellectual disability	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0012759	HP:0001249	Intellectual disability	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0001249	Intellectual disability	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0001249	Intellectual disability	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0002376	Developmental regression	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0012759	HP:0001249	Intellectual disability	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040283 - Occasional		49
HP:0012759	HP:0001249	Intellectual disability	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0012759	HP:0002376	Developmental regression	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0012759	HP:0001249	Intellectual disability	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0012759	HP:0001249	Intellectual disability	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012759	HP:0001249	Intellectual disability	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0012759	HP:0001249	Intellectual disability	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012759	HP:0002376	Developmental regression	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012759	HP:0002376	Developmental regression	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0012759	HP:0001249	Intellectual disability	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0012759	HP:0002376	Developmental regression	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0012759	HP:0001249	Intellectual disability	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0001249	Intellectual disability	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0012759	HP:0001249	Intellectual disability	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0012759	HP:0001249	Intellectual disability	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	HP:0040284 - Very rare
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0012759	HP:0001249	Intellectual disability	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0012759	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0012759	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0001328	Specific learning disability	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0012759	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012759	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0012759	HP:0001249	Intellectual disability	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0002376	Developmental regression	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		530
HP:0012759	HP:0001249	Intellectual disability	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012759	HP:0002376	Developmental regression	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0012759	HP:0002376	Developmental regression	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0012759	HP:0001249	Intellectual disability	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0012759	HP:0002376	Developmental regression	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0012759	HP:0001249	Intellectual disability	1	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0012759	HP:0001249	Intellectual disability	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012759	HP:0001249	Intellectual disability	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0012759	HP:0001328	Specific learning disability	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0012759	HP:0001249	Intellectual disability	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0012759	HP:0001249	Intellectual disability	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0012759	HP:0001249	Intellectual disability	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0012759	HP:0001249	Intellectual disability	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0012759	HP:0001249	Intellectual disability	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0012759	HP:0002376	Developmental regression	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0012759	HP:0001249	Intellectual disability	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012759	HP:0001249	Intellectual disability	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0012759	HP:0001249	Intellectual disability	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0001249	Intellectual disability	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0012759	HP:0001249	Intellectual disability	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0012759	HP:0002376	Developmental regression	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012759	HP:0001249	Intellectual disability	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0012759	HP:0002376	Developmental regression	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012759	HP:0001249	Intellectual disability	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0012759	HP:0001249	Intellectual disability	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0012759	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0012759	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0012759	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0012759	HP:0001249	Intellectual disability	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0012759	HP:0002376	Developmental regression	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	HP:0003593 - Infantile onset	60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0012759	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.		60
HP:0012759	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0002376	Developmental regression	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012759	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012759	HP:0002376	Developmental regression	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012759	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0012759	HP:0001249	Intellectual disability	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0001249	Intellectual disability	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0012759	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0012759	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0012759	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0012759	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0012759	HP:0001249	Intellectual disability	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0012759	HP:0001249	Intellectual disability	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.		19
HP:0012759	HP:0001249	Intellectual disability	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0012759	HP:0001249	Intellectual disability	1	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent		89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome			89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0012759	HP:0001249	Intellectual disability	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0012759	HP:0001328	Specific learning disability	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0012759	HP:0001249	Intellectual disability	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0012759	HP:0001249	Intellectual disability	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent		87
HP:0012759	HP:0001249	Intellectual disability	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0012759	HP:0001249	Intellectual disability	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0012759	HP:0001249	Intellectual disability	1	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.		74
HP:0012759	HP:0001249	Intellectual disability	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0001249	Intellectual disability	1	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040281 - Very frequent		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012759	HP:0001249	Intellectual disability	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0012759	HP:0001249	Intellectual disability	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0012759	HP:0001249	Intellectual disability	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0012759	HP:0001328	Specific learning disability	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0012759	HP:0001249	Intellectual disability	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	HP:0040283 - Occasional		50
HP:0012759	HP:0001249	Intellectual disability	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012759	HP:0001249	Intellectual disability	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040281 - Very frequent		58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012759	HP:0001249	Intellectual disability	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent		41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0012759	HP:0001249	Intellectual disability	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0012759	HP:0001249	Intellectual disability	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0012759	HP:0001249	Intellectual disability	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0001249	Intellectual disability	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0012759	HP:0001249	Intellectual disability	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040282 - Frequent		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012759	HP:0001249	Intellectual disability	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040281 - Very frequent		93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012759	HP:0001249	Intellectual disability	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012759	HP:0001249	Intellectual disability	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0012759	HP:0001328	Specific learning disability	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012759	HP:0001249	Intellectual disability	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		75
HP:0012759	HP:0001249	Intellectual disability	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0012759	HP:0001249	Intellectual disability	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.		5
HP:0012759	HP:0001249	Intellectual disability	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001249	Intellectual disability	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0012759	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0012759	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional		132
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0012759	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0012759	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0012759	HP:0001328	Specific learning disability	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012759	HP:0001249	Intellectual disability	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0012759	HP:0001249	Intellectual disability	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0012759	HP:0001328	Specific learning disability	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0012759	HP:0002376	Developmental regression	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0012759	HP:0001249	Intellectual disability	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0012759	HP:0001249	Intellectual disability	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0012759	HP:0001249	Intellectual disability	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0012759	HP:0001249	Intellectual disability	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0012759	HP:0001249	Intellectual disability	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0012759	HP:0001249	Intellectual disability	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0012759	HP:0001249	Intellectual disability	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0012759	HP:0001249	Intellectual disability	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0012759	HP:0001249	Intellectual disability	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0012759	HP:0001249	Intellectual disability	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	HP:0040283 - Occasional		64
HP:0012759	HP:0001249	Intellectual disability	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	HP:0040284 - Very rare		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012759	HP:0001249	Intellectual disability	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012759	HP:0001249	Intellectual disability	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0012759	HP:0001249	Intellectual disability	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0012759	HP:0001249	Intellectual disability	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0012759	HP:0001249	Intellectual disability	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0012759	HP:0001249	Intellectual disability	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0001249	Intellectual disability	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0012759	HP:0002376	Developmental regression	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012759	HP:0001249	Intellectual disability	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0012759	HP:0001249	Intellectual disability	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0012759	HP:0001249	Intellectual disability	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0012759	HP:0001249	Intellectual disability	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0012759	HP:0001249	Intellectual disability	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0012759	HP:0001249	Intellectual disability	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0012759	HP:0001249	Intellectual disability	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0012759	HP:0001249	Intellectual disability	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0012759	HP:0001249	Intellectual disability	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0012759	HP:0001249	Intellectual disability	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0012759	HP:0001249	Intellectual disability	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0012759	HP:0001328	Specific learning disability	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0012759	HP:0001249	Intellectual disability	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0012759	HP:0001249	Intellectual disability	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0001249	Intellectual disability	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012759	HP:0001328	Specific learning disability	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0012759	HP:0001249	Intellectual disability	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0012759	HP:0001249	Intellectual disability	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0012759	HP:0001249	Intellectual disability	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.		75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012759	HP:0001249	Intellectual disability	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012759	HP:0001249	Intellectual disability	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0012759	HP:0001249	Intellectual disability	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0012759	HP:0001249	Intellectual disability	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0012759	HP:0001249	Intellectual disability	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0012759	HP:0001249	Intellectual disability	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0012759	HP:0001249	Intellectual disability	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0012759	HP:0001249	Intellectual disability	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0012759	HP:0001249	Intellectual disability	1	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8			45
HP:0012759	HP:0002376	Developmental regression	1	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0012759	HP:0001249	Intellectual disability	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0012759	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0012759	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0012759	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0001249	Intellectual disability	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0012759	HP:0001249	Intellectual disability	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0012759	HP:0001249	Intellectual disability	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0012759	HP:0001249	Intellectual disability	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0001249	Intellectual disability	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0012759	HP:0001249	Intellectual disability	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0012759	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012759	HP:0001328	Specific learning disability	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012759	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0012759	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0012759	HP:0001249	Intellectual disability	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0012759	HP:0001249	Intellectual disability	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0012759	HP:0001249	Intellectual disability	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0012759	HP:0001249	Intellectual disability	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0001249	Intellectual disability	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0012759	HP:0002376	Developmental regression	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0012759	HP:0002376	Developmental regression	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0012759	HP:0002376	Developmental regression	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0012759	HP:0001249	Intellectual disability	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0012759	HP:0001249	Intellectual disability	1	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38			3
HP:0012759	HP:0001249	Intellectual disability	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0002376	Developmental regression	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0001249	Intellectual disability	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001328	Specific learning disability	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0012759	HP:0002376	Developmental regression	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012759	HP:0002376	Developmental regression	1	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0001328	Specific learning disability	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0012759	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0001249	Intellectual disability	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0012759	HP:0002376	Developmental regression	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012759	HP:0001249	Intellectual disability	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012759	HP:0001249	Intellectual disability	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040284 - Very rare		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0012759	HP:0001249	Intellectual disability	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		15
HP:0012759	HP:0001249	Intellectual disability	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012759	HP:0001249	Intellectual disability	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0012759	HP:0001249	Intellectual disability	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040282 - Frequent		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0012759	HP:0002376	Developmental regression	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012759	HP:0001328	Specific learning disability	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0012759	HP:0001249	Intellectual disability	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0012759	HP:0001249	Intellectual disability	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0012759	HP:0001249	Intellectual disability	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012759	HP:0001249	Intellectual disability	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040281 - Very frequent		145
HP:0012759	HP:0001249	Intellectual disability	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent		49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0012759	HP:0001249	Intellectual disability	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0001249	Intellectual disability	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0012759	HP:0001249	Intellectual disability	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0001249	Intellectual disability	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0012759	HP:0001249	Intellectual disability	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0012759	HP:0001249	Intellectual disability	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0012759	HP:0001249	Intellectual disability	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012759	HP:0001249	Intellectual disability	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0012759	HP:0002376	Developmental regression	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012759	HP:0001249	Intellectual disability	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability			4
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.		239
HP:0012759	HP:0002376	Developmental regression	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1			239
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		239
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0012759	HP:0002376	Developmental regression	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012759	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0012759	HP:0002376	Developmental regression	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012759	HP:0001249	Intellectual disability	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0012759	HP:0001249	Intellectual disability	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012759	HP:0001249	Intellectual disability	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3	.
HP:0012759	HP:0002376	Developmental regression	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0012759	HP:0001249	Intellectual disability	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0012759	HP:0002376	Developmental regression	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001249	Intellectual disability	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0012759	HP:0001249	Intellectual disability	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0012759	HP:0001249	Intellectual disability	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0001249	Intellectual disability	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040281 - Very frequent		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0002376	Developmental regression	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0012759	HP:0001249	Intellectual disability	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0012759	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0012759	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0012759	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0012759	HP:0002376	Developmental regression	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0012759	HP:0002376	Developmental regression	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0012759	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent		192
HP:0012759	HP:0001328	Specific learning disability	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent		192
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0012759	HP:0001249	Intellectual disability	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0012759	HP:0001249	Intellectual disability	1	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.		24
HP:0012759	HP:0001249	Intellectual disability	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012759	HP:0001249	Intellectual disability	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0012759	HP:0001249	Intellectual disability	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0012759	HP:0001249	Intellectual disability	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent		169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0012759	HP:0001249	Intellectual disability	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0012759	HP:0001249	Intellectual disability	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012759	HP:0001249	Intellectual disability	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040281 - Very frequent		61
HP:0012759	HP:0001328	Specific learning disability	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0012759	HP:0001249	Intellectual disability	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0012759	HP:0001249	Intellectual disability	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012759	HP:0001249	Intellectual disability	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0012759	HP:0001249	Intellectual disability	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0012759	HP:0001328	Specific learning disability	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0012759	HP:0001249	Intellectual disability	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0012759	HP:0001249	Intellectual disability	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0012759	HP:0001249	Intellectual disability	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0012759	HP:0001249	Intellectual disability	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent		25
HP:0012759	HP:0001249	Intellectual disability	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0012759	HP:0001249	Intellectual disability	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0012759	HP:0001249	Intellectual disability	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0012759	HP:0001249	Intellectual disability	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0001249	Intellectual disability	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0012759	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0012759	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012759	HP:0001328	Specific learning disability	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012759	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0012759	HP:0001249	Intellectual disability	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0012759	HP:0001249	Intellectual disability	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0012759	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0012759	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012759	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0012759	HP:0001249	Intellectual disability	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0012759	HP:0001249	Intellectual disability	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0012759	HP:0001249	Intellectual disability	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0012759	HP:0001249	Intellectual disability	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0012759	HP:0001249	Intellectual disability	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0012759	HP:0001249	Intellectual disability	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0001249	Intellectual disability	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012759	HP:0001249	Intellectual disability	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0012759	HP:0001249	Intellectual disability	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0001249	Intellectual disability	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0012759	HP:0001249	Intellectual disability	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0012759	HP:0001249	Intellectual disability	1	BCKDK CL E G H	10295	16902	OMIM:614923	Branched-Chain ketoacid dehydrogenase kinase deficiency	HP:0040280 - Obligate		28
HP:0012759	HP:0001249	Intellectual disability	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0012759	HP:0001249	Intellectual disability	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0012759	HP:0001249	Intellectual disability	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0012759	HP:0001249	Intellectual disability	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0012759	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0012759	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0012759	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0012759	HP:0001249	Intellectual disability	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040283 - Occasional		72
HP:0012759	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	HP:0040283 - Occasional		72
HP:0012759	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012759	HP:0001249	Intellectual disability	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0012759	HP:0001249	Intellectual disability	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0012759	HP:0001249	Intellectual disability	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0012759	HP:0002376	Developmental regression	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012759	HP:0001249	Intellectual disability	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0012759	HP:0001249	Intellectual disability	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0012759	HP:0001249	Intellectual disability	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012759	HP:0001328	Specific learning disability	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0012759	HP:0001249	Intellectual disability	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0012759	HP:0002376	Developmental regression	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0012759	HP:0001249	Intellectual disability	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0012759	HP:0002376	Developmental regression	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012759	HP:0001249	Intellectual disability	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0012759	HP:0001328	Specific learning disability	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0012759	HP:0001249	Intellectual disability	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012759	HP:0001249	Intellectual disability	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0012759	HP:0001249	Intellectual disability	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0012759	HP:0001249	Intellectual disability	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0012759	HP:0001249	Intellectual disability	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0012759	HP:0001249	Intellectual disability	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0012759	HP:0001249	Intellectual disability	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0012759	HP:0002376	Developmental regression	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0012759	HP:0001249	Intellectual disability	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0012759	HP:0001249	Intellectual disability	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012759	HP:0001249	Intellectual disability	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0012759	HP:0001249	Intellectual disability	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0012759	HP:0001249	Intellectual disability	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0012759	HP:0001249	Intellectual disability	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012759	HP:0001249	Intellectual disability	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0012759	HP:0001249	Intellectual disability	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0012759	HP:0001249	Intellectual disability	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0012759	HP:0001249	Intellectual disability	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012759	HP:0002376	Developmental regression	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012759	HP:0001328	Specific learning disability	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0012759	HP:0001328	Specific learning disability	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0012759	HP:0001328	Specific learning disability	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0012759	HP:0001328	Specific learning disability	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0012759	HP:0001249	Intellectual disability	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0012759	HP:0001328	Specific learning disability	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012759	HP:0001249	Intellectual disability	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0012759	HP:0001249	Intellectual disability	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012759	HP:0001249	Intellectual disability	1	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0012759	HP:0001249	Intellectual disability	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001249	Intellectual disability	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		449
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040283 - Occasional		449
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		449
HP:0012759	HP:0001328	Specific learning disability	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0012759	HP:0002376	Developmental regression	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0012759	HP:0002376	Developmental regression	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0002376	Developmental regression	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012759	HP:0002376	Developmental regression	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0012759	HP:0001249	Intellectual disability	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0012759	HP:0001328	Specific learning disability	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0012759	HP:0001249	Intellectual disability	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0012759	HP:0002376	Developmental regression	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0012759	HP:0001249	Intellectual disability	1	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10			5
HP:0012759	HP:0002376	Developmental regression	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0012759	HP:0001249	Intellectual disability	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0012759	HP:0001249	Intellectual disability	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0012759	HP:0001249	Intellectual disability	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0012759	HP:0002376	Developmental regression	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0001249	Intellectual disability	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0012759	HP:0001249	Intellectual disability	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012759	HP:0001249	Intellectual disability	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012759	HP:0001249	Intellectual disability	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0012759	HP:0001249	Intellectual disability	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0012759	HP:0001249	Intellectual disability	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0012759	HP:0001249	Intellectual disability	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0012759	HP:0002376	Developmental regression	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0012759	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		118
HP:0012759	HP:0002376	Developmental regression	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0012759	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0012759	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0012759	HP:0001249	Intellectual disability	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0012759	HP:0001249	Intellectual disability	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012759	HP:0001249	Intellectual disability	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent		242
HP:0012759	HP:0001249	Intellectual disability	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0012759	HP:0001249	Intellectual disability	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0012759	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012759	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0012759	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		247
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0012759	HP:0001249	Intellectual disability	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0012759	HP:0001249	Intellectual disability	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0012759	HP:0001249	Intellectual disability	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0012759	HP:0001249	Intellectual disability	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012759	HP:0001328	Specific learning disability	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0012759	HP:0001249	Intellectual disability	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0012759	HP:0001249	Intellectual disability	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0012759	HP:0002376	Developmental regression	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0012759	HP:0002376	Developmental regression	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0012759	HP:0001249	Intellectual disability	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0012759	HP:0001249	Intellectual disability	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0001249	Intellectual disability	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0012759	HP:0001249	Intellectual disability	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		9
HP:0012759	HP:0001328	Specific learning disability	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0012759	HP:0001249	Intellectual disability	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		31
HP:0012759	HP:0001328	Specific learning disability	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0012759	HP:0001249	Intellectual disability	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3	HP:0040284 - Very rare		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0012759	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0012759	HP:0001249	Intellectual disability	1	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0012759	HP:0001249	Intellectual disability	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0001249	Intellectual disability	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0012759	HP:0001249	Intellectual disability	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0012759	HP:0001249	Intellectual disability	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0012759	HP:0001249	Intellectual disability	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012759	HP:0001249	Intellectual disability	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012759	HP:0001249	Intellectual disability	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0012759	HP:0001249	Intellectual disability	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0012759	HP:0001249	Intellectual disability	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0012759	HP:0001249	Intellectual disability	1	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.		6
HP:0012759	HP:0001249	Intellectual disability	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0012759	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0012759	HP:0002376	Developmental regression	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0012759	HP:0007281	Developmental stagnation	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0012759	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0012759	HP:0002376	Developmental regression	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.		405
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0012759	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		405
HP:0012759	HP:0002376	Developmental regression	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		405
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0012759	HP:0002376	Developmental regression	1	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		405
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001328	Specific learning disability	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001328	Specific learning disability	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001328	Specific learning disability	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001328	Specific learning disability	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0012759	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001328	Specific learning disability	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0012759	HP:0001249	Intellectual disability	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		50
HP:0012759	HP:0001328	Specific learning disability	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0012759	HP:0001249	Intellectual disability	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0001249	Intellectual disability	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0012759	HP:0001249	Intellectual disability	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0012759	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0012759	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0012759	HP:0001249	Intellectual disability	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0012759	HP:0001249	Intellectual disability	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0012759	HP:0001249	Intellectual disability	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0012759	HP:0001249	Intellectual disability	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0012759	HP:0001249	Intellectual disability	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0012759	HP:0001249	Intellectual disability	1	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive			38
HP:0012759	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0012759	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0012759	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.		146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012759	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0012759	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0012759	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0012759	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		342
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0012759	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		342
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0012759	HP:0001249	Intellectual disability	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0012759	HP:0001249	Intellectual disability	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0012759	HP:0001249	Intellectual disability	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0012759	HP:0001249	Intellectual disability	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0012759	HP:0001249	Intellectual disability	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0012759	HP:0001249	Intellectual disability	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0012759	HP:0001249	Intellectual disability	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0012759	HP:0001249	Intellectual disability	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0012759	HP:0001249	Intellectual disability	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0012759	HP:0001249	Intellectual disability	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0012759	HP:0001249	Intellectual disability	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0001249	Intellectual disability	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0012759	HP:0001249	Intellectual disability	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0012759	HP:0001249	Intellectual disability	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0001249	Intellectual disability	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0012759	HP:0001328	Specific learning disability	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0012759	HP:0001249	Intellectual disability	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0012759	HP:0002376	Developmental regression	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0012759	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		227
HP:0012759	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		227
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0012759	HP:0001249	Intellectual disability	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0012759	HP:0001249	Intellectual disability	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0012759	HP:0001249	Intellectual disability	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0001249	Intellectual disability	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0012759	HP:0001249	Intellectual disability	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0012759	HP:0002376	Developmental regression	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0001328	Specific learning disability	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0012759	HP:0001328	Specific learning disability	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0012759	HP:0001328	Specific learning disability	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0012759	HP:0001249	Intellectual disability	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0012759	HP:0001249	Intellectual disability	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0012759	HP:0001249	Intellectual disability	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0012759	HP:0001249	Intellectual disability	1	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1			225
HP:0012759	HP:0001249	Intellectual disability	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040282 - Frequent		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0012759	HP:0001249	Intellectual disability	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0001328	Specific learning disability	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0012759	HP:0001249	Intellectual disability	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0012759	HP:0001249	Intellectual disability	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	HP:0040283 - Occasional		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0012759	HP:0001249	Intellectual disability	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0001328	Specific learning disability	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ			15
HP:0012759	HP:0001249	Intellectual disability	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.		39
HP:0012759	HP:0002376	Developmental regression	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012759	HP:0001249	Intellectual disability	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0002376	Developmental regression	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0012759	HP:0001249	Intellectual disability	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0012759	HP:0001249	Intellectual disability	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0012759	HP:0001249	Intellectual disability	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001328	Specific learning disability	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0001249	Intellectual disability	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0012759	HP:0001249	Intellectual disability	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012759	HP:0001249	Intellectual disability	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012759	HP:0001249	Intellectual disability	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012759	HP:0001249	Intellectual disability	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0001249	Intellectual disability	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0001249	Intellectual disability	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0012759	HP:0001249	Intellectual disability	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0012759	HP:0002376	Developmental regression	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0012759	HP:0002376	Developmental regression	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0012759	HP:0001249	Intellectual disability	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0012759	HP:0001249	Intellectual disability	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent		111
HP:0012759	HP:0002376	Developmental regression	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0012759	HP:0001249	Intellectual disability	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0012759	HP:0001249	Intellectual disability	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0012759	HP:0002376	Developmental regression	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012759	HP:0001249	Intellectual disability	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.		38
HP:0012759	HP:0002376	Developmental regression	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040283 - Occasional		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0012759	HP:0001249	Intellectual disability	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0012759	HP:0001249	Intellectual disability	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012759	HP:0001249	Intellectual disability	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002376	Developmental regression	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0001328	Specific learning disability	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012759	HP:0001249	Intellectual disability	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0012759	HP:0001249	Intellectual disability	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0012759	HP:0001249	Intellectual disability	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0012759	HP:0001328	Specific learning disability	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0001249	Intellectual disability	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0012759	HP:0002376	Developmental regression	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0012759	HP:0001249	Intellectual disability	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012759	HP:0001249	Intellectual disability	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0012759	HP:0001249	Intellectual disability	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0002376	Developmental regression	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012759	HP:0001249	Intellectual disability	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0012759	HP:0002376	Developmental regression	1	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		9
HP:0012759	HP:0001249	Intellectual disability	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0001249	Intellectual disability	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	HP:0011463 - Childhood onset	518
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0012759	HP:0001249	Intellectual disability	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012759	HP:0002376	Developmental regression	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012759	HP:0001249	Intellectual disability	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012759	HP:0002376	Developmental regression	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0012759	HP:0001249	Intellectual disability	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0012759	HP:0001249	Intellectual disability	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0012759	HP:0001249	Intellectual disability	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0012759	HP:0001249	Intellectual disability	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0012759	HP:0001249	Intellectual disability	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012759	HP:0001249	Intellectual disability	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0012759	HP:0001249	Intellectual disability	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012759	HP:0001249	Intellectual disability	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0012759	HP:0002376	Developmental regression	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012759	HP:0001249	Intellectual disability	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0012759	HP:0001249	Intellectual disability	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0012759	HP:0001249	Intellectual disability	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0012759	HP:0001249	Intellectual disability	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040283 - Occasional		284
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0012759	HP:0001249	Intellectual disability	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040283 - Occasional		284
HP:0012759	HP:0001249	Intellectual disability	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent		749
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0012759	HP:0001249	Intellectual disability	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0012759	HP:0001249	Intellectual disability	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0012759	HP:0001328	Specific learning disability	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0012759	HP:0001249	Intellectual disability	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0012759	HP:0001249	Intellectual disability	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0012759	HP:0001249	Intellectual disability	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0001249	Intellectual disability	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3
HP:0012759	HP:0001249	Intellectual disability	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0012759	HP:0001249	Intellectual disability	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001328	Specific learning disability	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0001249	Intellectual disability	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012759	HP:0001249	Intellectual disability	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012759	HP:0001249	Intellectual disability	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0012759	HP:0001328	Specific learning disability	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012759	HP:0002376	Developmental regression	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012759	HP:0001249	Intellectual disability	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012759	HP:0001249	Intellectual disability	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0012759	HP:0002376	Developmental regression	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0012759	HP:0001249	Intellectual disability	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8			7
HP:0012759	HP:0001328	Specific learning disability	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012759	HP:0001249	Intellectual disability	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012759	HP:0001328	Specific learning disability	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012759	HP:0001328	Specific learning disability	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0012759	HP:0001249	Intellectual disability	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001328	Specific learning disability	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012759	HP:0001249	Intellectual disability	1	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5			49
HP:0012759	HP:0001249	Intellectual disability	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012759	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0012759	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012759	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0012759	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0012759	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0012759	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012759	HP:0001249	Intellectual disability	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012759	HP:0001249	Intellectual disability	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0012759	HP:0001249	Intellectual disability	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		156
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0012759	HP:0001249	Intellectual disability	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0012759	HP:0001249	Intellectual disability	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0012759	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040281 - Very frequent		291
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0012759	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0012759	HP:0001249	Intellectual disability	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0012759	HP:0001249	Intellectual disability	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	HP:0040283 - Occasional		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0012759	HP:0001249	Intellectual disability	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0012759	HP:0001249	Intellectual disability	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001328	Specific learning disability	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0012759	HP:0001249	Intellectual disability	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0012759	HP:0001249	Intellectual disability	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0012759	HP:0001249	Intellectual disability	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0012759	HP:0001249	Intellectual disability	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012759	HP:0001249	Intellectual disability	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0001249	Intellectual disability	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0012759	HP:0001249	Intellectual disability	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0012759	HP:0001249	Intellectual disability	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0012759	HP:0001249	Intellectual disability	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		51
HP:0012759	HP:0001249	Intellectual disability	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	HP:0040284 - Very rare		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0012759	HP:0001249	Intellectual disability	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0012759	HP:0001249	Intellectual disability	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0012759	HP:0001249	Intellectual disability	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0012759	HP:0001249	Intellectual disability	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040282 - Frequent		38
HP:0012759	HP:0001249	Intellectual disability	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0012759	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012759	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012759	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent		88
HP:0012759	HP:0002376	Developmental regression	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0012759	HP:0001249	Intellectual disability	1	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		15
HP:0012759	HP:0001249	Intellectual disability	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012759	HP:0001249	Intellectual disability	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent		51
HP:0012759	HP:0001249	Intellectual disability	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012759	HP:0001249	Intellectual disability	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012759	HP:0002376	Developmental regression	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0012759	HP:0001249	Intellectual disability	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0001249	Intellectual disability	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0012759	HP:0001249	Intellectual disability	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0012759	HP:0001249	Intellectual disability	1	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	HP:0040284 - Very rare		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0012759	HP:0001249	Intellectual disability	1	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0001249	Intellectual disability	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0012759	HP:0001249	Intellectual disability	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0012759	HP:0001249	Intellectual disability	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012759	HP:0001249	Intellectual disability	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012759	HP:0001249	Intellectual disability	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0012759	HP:0001249	Intellectual disability	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002376	Developmental regression	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0001328	Specific learning disability	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012759	HP:0001249	Intellectual disability	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0012759	HP:0001249	Intellectual disability	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0012759	HP:0001249	Intellectual disability	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0012759	HP:0001328	Specific learning disability	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0012759	HP:0001249	Intellectual disability	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0012759	HP:0001249	Intellectual disability	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0012759	HP:0001249	Intellectual disability	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0012759	HP:0001249	Intellectual disability	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0012759	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0012759	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0012759	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0012759	HP:0001328	Specific learning disability	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0001249	Intellectual disability	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0001249	Intellectual disability	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012759	HP:0001249	Intellectual disability	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0012759	HP:0001328	Specific learning disability	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0012759	HP:0001249	Intellectual disability	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0012759	HP:0001249	Intellectual disability	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0012759	HP:0001249	Intellectual disability	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012759	HP:0001249	Intellectual disability	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0012759	HP:0001328	Specific learning disability	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		36
HP:0012759	HP:0001249	Intellectual disability	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0012759	HP:0001249	Intellectual disability	1	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1			36
HP:0012759	HP:0001249	Intellectual disability	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0012759	HP:0001249	Intellectual disability	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012759	HP:0001249	Intellectual disability	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0012759	HP:0001249	Intellectual disability	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0012759	HP:0001249	Intellectual disability	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0012759	HP:0002376	Developmental regression	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0012759	HP:0001249	Intellectual disability	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent		29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0012759	HP:0001249	Intellectual disability	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0012759	HP:0001249	Intellectual disability	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0012759	HP:0001249	Intellectual disability	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040280 - Obligate		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0012759	HP:0001249	Intellectual disability	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0012759	HP:0001249	Intellectual disability	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012759	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0012759	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0002376	Developmental regression	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0012759	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0012759	HP:0001249	Intellectual disability	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0012759	HP:0001249	Intellectual disability	1	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci	HP:0040283 - Occasional		172
HP:0012759	HP:0001249	Intellectual disability	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		172
HP:0012759	HP:0001249	Intellectual disability	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0001328	Specific learning disability	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0012759	HP:0001249	Intellectual disability	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0001328	Specific learning disability	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0012759	HP:0001249	Intellectual disability	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0001328	Specific learning disability	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0012759	HP:0001249	Intellectual disability	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0012759	HP:0001249	Intellectual disability	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0001249	Intellectual disability	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0001249	Intellectual disability	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	.		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0012759	HP:0001249	Intellectual disability	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0012759	HP:0002376	Developmental regression	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0012759	HP:0001249	Intellectual disability	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0012759	HP:0001249	Intellectual disability	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012759	HP:0001249	Intellectual disability	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012759	HP:0001249	Intellectual disability	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0012759	HP:0001249	Intellectual disability	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type			4
HP:0012759	HP:0001249	Intellectual disability	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0012759	HP:0001328	Specific learning disability	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0012759	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0012759	HP:0001249	Intellectual disability	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0012759	HP:0001249	Intellectual disability	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0012759	HP:0001249	Intellectual disability	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0001249	Intellectual disability	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040281 - Very frequent		89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0012759	HP:0001249	Intellectual disability	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0001249	Intellectual disability	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0012759	HP:0001249	Intellectual disability	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0001249	Intellectual disability	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0001249	Intellectual disability	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012759	HP:0001249	Intellectual disability	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0012759	HP:0001249	Intellectual disability	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0012759	HP:0001249	Intellectual disability	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0012759	HP:0001249	Intellectual disability	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0012759	HP:0001249	Intellectual disability	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0012759	HP:0001328	Specific learning disability	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0012759	HP:0001249	Intellectual disability	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0012759	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0012759	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0012759	HP:0002376	Developmental regression	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012759	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0012759	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0012759	HP:0001328	Specific learning disability	1	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0012759	HP:0002376	Developmental regression	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0012759	HP:0001328	Specific learning disability	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	HP:0040283 - Occasional		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0012759	HP:0001249	Intellectual disability	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0012759	HP:0001328	Specific learning disability	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012759	HP:0001249	Intellectual disability	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0012759	HP:0002376	Developmental regression	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0012759	HP:0001249	Intellectual disability	1	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0001249	Intellectual disability	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0012759	HP:0002376	Developmental regression	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012759	HP:0002376	Developmental regression	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0012759	HP:0001249	Intellectual disability	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0012759	HP:0001249	Intellectual disability	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.		44
HP:0012759	HP:0002376	Developmental regression	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0012759	HP:0001249	Intellectual disability	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0012759	HP:0001249	Intellectual disability	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0001249	Intellectual disability	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0012759	HP:0001249	Intellectual disability	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0012759	HP:0001249	Intellectual disability	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0012759	HP:0001249	Intellectual disability	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0001249	Intellectual disability	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0012759	HP:0001249	Intellectual disability	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0012759	HP:0001249	Intellectual disability	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0012759	HP:0001249	Intellectual disability	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0001249	Intellectual disability	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0001249	Intellectual disability	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0002376	Developmental regression	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040281 - Very frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0012759	HP:0001249	Intellectual disability	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0001249	Intellectual disability	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0012759	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0012759	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0012759	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0001328	Specific learning disability	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040282 - Frequent		144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0001249	Intellectual disability	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0012759	HP:0001249	Intellectual disability	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040283 - Occasional		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012759	HP:0001249	Intellectual disability	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0012759	HP:0001249	Intellectual disability	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012759	HP:0002376	Developmental regression	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012759	HP:0001249	Intellectual disability	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0012759	HP:0001249	Intellectual disability	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0012759	HP:0001249	Intellectual disability	1	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.		11
HP:0012759	HP:0001249	Intellectual disability	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0012759	HP:0001328	Specific learning disability	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0012759	HP:0001249	Intellectual disability	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001328	Specific learning disability	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040281 - Very frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0012759	HP:0001249	Intellectual disability	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.		427
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0012759	HP:0001249	Intellectual disability	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0012759	HP:0001249	Intellectual disability	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0001249	Intellectual disability	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040281 - Very frequent		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0012759	HP:0001249	Intellectual disability	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0012759	HP:0001249	Intellectual disability	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0002376	Developmental regression	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012759	HP:0001249	Intellectual disability	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0012759	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0012759	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0012759	HP:0001249	Intellectual disability	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0012759	HP:0001249	Intellectual disability	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012759	HP:0001249	Intellectual disability	1	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.		1
HP:0012759	HP:0001249	Intellectual disability	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0012759	HP:0001249	Intellectual disability	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0012759	HP:0001249	Intellectual disability	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0012759	HP:0001249	Intellectual disability	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0012759	HP:0001249	Intellectual disability	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0012759	HP:0002376	Developmental regression	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0012759	HP:0001249	Intellectual disability	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040284 - Very rare		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0012759	HP:0001249	Intellectual disability	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0012759	HP:0001249	Intellectual disability	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0012759	HP:0001249	Intellectual disability	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0012759	HP:0001249	Intellectual disability	1	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0012759	HP:0001249	Intellectual disability	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0012759	HP:0001249	Intellectual disability	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0012759	HP:0001328	Specific learning disability	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0012759	HP:0001249	Intellectual disability	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040281 - Very frequent		223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0001249	Intellectual disability	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012759	HP:0001249	Intellectual disability	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012759	HP:0002376	Developmental regression	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0012759	HP:0002376	Developmental regression	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0012759	HP:0002376	Developmental regression	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0012759	HP:0002376	Developmental regression	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0012759	HP:0002376	Developmental regression	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0012759	HP:0001249	Intellectual disability	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012759	HP:0002376	Developmental regression	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0012759	HP:0001249	Intellectual disability	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0012759	HP:0001249	Intellectual disability	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0012759	HP:0001249	Intellectual disability	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0012759	HP:0002376	Developmental regression	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0012759	HP:0001249	Intellectual disability	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012759	HP:0001328	Specific learning disability	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012759	HP:0001249	Intellectual disability	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0012759	HP:0001249	Intellectual disability	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0012759	HP:0001249	Intellectual disability	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0012759	HP:0001249	Intellectual disability	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0012759	HP:0001249	Intellectual disability	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012759	HP:0001249	Intellectual disability	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0012759	HP:0001249	Intellectual disability	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0012759	HP:0001249	Intellectual disability	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0012759	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0012759	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0012759	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0012759	HP:0001249	Intellectual disability	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0012759	HP:0002376	Developmental regression	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0012759	HP:0001249	Intellectual disability	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0012759	HP:0002376	Developmental regression	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012759	HP:0002376	Developmental regression	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0012759	HP:0001249	Intellectual disability	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0012759	HP:0001249	Intellectual disability	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0012759	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0012759	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0012759	HP:0002376	Developmental regression	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0012759	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0012759	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0012759	HP:0001249	Intellectual disability	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0012759	HP:0002376	Developmental regression	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0012759	HP:0001249	Intellectual disability	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0012759	HP:0001249	Intellectual disability	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0012759	HP:0002376	Developmental regression	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0012759	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0012759	HP:0001249	Intellectual disability	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0012759	HP:0002376	Developmental regression	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0012759	HP:0001249	Intellectual disability	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		199
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012759	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012759	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0012759	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		55
HP:0012759	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0012759	HP:0001249	Intellectual disability	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0012759	HP:0001249	Intellectual disability	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0012759	HP:0002376	Developmental regression	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0012759	HP:0001249	Intellectual disability	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	HP:0040283 - Occasional		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0012759	HP:0001249	Intellectual disability	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0012759	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0012759	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent		92
HP:0012759	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0012759	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0012759	HP:0001249	Intellectual disability	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0012759	HP:0001249	Intellectual disability	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0012759	HP:0001328	Specific learning disability	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0012759	HP:0001249	Intellectual disability	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0012759	HP:0002376	Developmental regression	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0012759	HP:0001249	Intellectual disability	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0012759	HP:0002376	Developmental regression	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0012759	HP:0001249	Intellectual disability	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		209
HP:0012759	HP:0001249	Intellectual disability	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	HP:0040283 - Occasional		209
HP:0012759	HP:0001249	Intellectual disability	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		137
HP:0012759	HP:0001249	Intellectual disability	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	HP:0040283 - Occasional		137
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012759	HP:0001249	Intellectual disability	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012759	HP:0001249	Intellectual disability	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0012759	HP:0001249	Intellectual disability	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0012759	HP:0001249	Intellectual disability	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		96
HP:0012759	HP:0001249	Intellectual disability	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0012759	HP:0001249	Intellectual disability	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0012759	HP:0001249	Intellectual disability	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0012759	HP:0001249	Intellectual disability	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001328	Specific learning disability	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0012759	HP:0001249	Intellectual disability	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0012759	HP:0001249	Intellectual disability	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0012759	HP:0001249	Intellectual disability	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0012759	HP:0001249	Intellectual disability	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0012759	HP:0001249	Intellectual disability	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0012759	HP:0001249	Intellectual disability	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0012759	HP:0001249	Intellectual disability	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0012759	HP:0001249	Intellectual disability	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012759	HP:0001249	Intellectual disability	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0012759	HP:0001249	Intellectual disability	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	.
HP:0012759	HP:0002376	Developmental regression	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0012759	HP:0001249	Intellectual disability	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0012759	HP:0001249	Intellectual disability	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0012759	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0012759	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012759	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0012759	HP:0001249	Intellectual disability	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0012759	HP:0001249	Intellectual disability	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0012759	HP:0001249	Intellectual disability	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0012759	HP:0001249	Intellectual disability	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0012759	HP:0001249	Intellectual disability	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0012759	HP:0001249	Intellectual disability	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0012759	HP:0001249	Intellectual disability	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0012759	HP:0001328	Specific learning disability	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0012759	HP:0001249	Intellectual disability	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0012759	HP:0001249	Intellectual disability	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0012759	HP:0001249	Intellectual disability	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012759	HP:0001249	Intellectual disability	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0001249	Intellectual disability	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0012759	HP:0001249	Intellectual disability	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0002376	Developmental regression	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0002376	Developmental regression	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012759	HP:0001328	Specific learning disability	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0002376	Developmental regression	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012759	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012759	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0012759	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0012759	HP:0001249	Intellectual disability	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0012759	HP:0001249	Intellectual disability	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040284 - Very rare		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0012759	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0012759	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0012759	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0012759	HP:0001249	Intellectual disability	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0012759	HP:0001249	Intellectual disability	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012759	HP:0001249	Intellectual disability	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0012759	HP:0001249	Intellectual disability	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012759	HP:0002376	Developmental regression	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012759	HP:0001249	Intellectual disability	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.		8
HP:0012759	HP:0001249	Intellectual disability	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0012759	HP:0001249	Intellectual disability	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0001328	Specific learning disability	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0002376	Developmental regression	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0001249	Intellectual disability	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012759	HP:0002376	Developmental regression	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012759	HP:0001249	Intellectual disability	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0012759	HP:0002376	Developmental regression	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0012759	HP:0001249	Intellectual disability	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0002376	Developmental regression	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0002376	Developmental regression	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0001249	Intellectual disability	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002376	Developmental regression	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0001249	Intellectual disability	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0012759	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001328	Specific learning disability	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0001328	Specific learning disability	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional		172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.		172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0001328	Specific learning disability	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	HP:0040283 - Occasional		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:609579	Familial scaphocephaly syndrome, Mcgillivray type	.		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type			175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent		175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0012759	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	HP:0040283 - Occasional		145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0012759	HP:0001249	Intellectual disability	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0012759	HP:0001249	Intellectual disability	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012759	HP:0001249	Intellectual disability	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040282 - Frequent		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012759	HP:0002376	Developmental regression	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0012759	HP:0001249	Intellectual disability	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent		157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0012759	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0012759	HP:0001328	Specific learning disability	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0012759	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0012759	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0012759	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0012759	HP:0001328	Specific learning disability	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0012759	HP:0001249	Intellectual disability	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0001249	Intellectual disability	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	FLI1 CL E G H	2313	3749	ORPHA:851	Paris-Trousseau thrombocytopenia	HP:0040282 - Frequent		8
HP:0012759	HP:0001249	Intellectual disability	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0012759	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0012759	HP:0001249	Intellectual disability	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0012759	HP:0001249	Intellectual disability	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0012759	HP:0001328	Specific learning disability	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040283 - Occasional		90
HP:0012759	HP:0001249	Intellectual disability	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	HP:0040283 - Occasional		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012759	HP:0001249	Intellectual disability	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0012759	HP:0001249	Intellectual disability	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0012759	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0012759	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0012759	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0012759	HP:0001328	Specific learning disability	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040282 - Frequent		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0012759	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012759	HP:0001249	Intellectual disability	1	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency	.		47
HP:0012759	HP:0002376	Developmental regression	1	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency	.		47
HP:0012759	HP:0001249	Intellectual disability	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012759	HP:0001249	Intellectual disability	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0012759	HP:0001249	Intellectual disability	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012759	HP:0001249	Intellectual disability	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012759	HP:0002376	Developmental regression	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012759	HP:0001249	Intellectual disability	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0002376	Developmental regression	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001328	Specific learning disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001328	Specific learning disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001328	Specific learning disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001328	Specific learning disability	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0012759	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001328	Specific learning disability	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0012759	HP:0001249	Intellectual disability	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0012759	HP:0001249	Intellectual disability	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0001249	Intellectual disability	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012759	HP:0001249	Intellectual disability	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0001328	Specific learning disability	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012759	HP:0001249	Intellectual disability	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0012759	HP:0001249	Intellectual disability	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0012759	HP:0001249	Intellectual disability	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0012759	HP:0001249	Intellectual disability	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0012759	HP:0001249	Intellectual disability	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0012759	HP:0001249	Intellectual disability	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0012759	HP:0001249	Intellectual disability	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012759	HP:0001249	Intellectual disability	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0001328	Specific learning disability	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0001249	Intellectual disability	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0001249	Intellectual disability	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		4
HP:0012759	HP:0002376	Developmental regression	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		4
HP:0012759	HP:0001249	Intellectual disability	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0012759	HP:0002376	Developmental regression	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0012759	HP:0001249	Intellectual disability	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0012759	HP:0001249	Intellectual disability	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0012759	HP:0001249	Intellectual disability	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0012759	HP:0001249	Intellectual disability	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0001249	Intellectual disability	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0012759	HP:0001249	Intellectual disability	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0012759	HP:0002376	Developmental regression	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0012759	HP:0001328	Specific learning disability	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012759	HP:0001249	Intellectual disability	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0012759	HP:0001249	Intellectual disability	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012759	HP:0001249	Intellectual disability	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012759	HP:0001249	Intellectual disability	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0012759	HP:0001249	Intellectual disability	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040283 - Occasional		407
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0012759	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0002376	Developmental regression	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0007281	Developmental stagnation	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0012759	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0012759	HP:0002376	Developmental regression	1	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0012759	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0002376	Developmental regression	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0012759	HP:0001249	Intellectual disability	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0012759	HP:0001328	Specific learning disability	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0012759	HP:0002376	Developmental regression	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		134
HP:0012759	HP:0001249	Intellectual disability	1	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012759	HP:0001249	Intellectual disability	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0012759	HP:0002376	Developmental regression	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0012759	HP:0001249	Intellectual disability	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0001249	Intellectual disability	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0002376	Developmental regression	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45			3
HP:0012759	HP:0001249	Intellectual disability	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0012759	HP:0001249	Intellectual disability	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0012759	HP:0002376	Developmental regression	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0012759	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0012759	HP:0001328	Specific learning disability	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0012759	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43			57
HP:0012759	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0001249	Intellectual disability	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0012759	HP:0002376	Developmental regression	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		10
HP:0012759	HP:0001249	Intellectual disability	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0001328	Specific learning disability	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0002376	Developmental regression	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		139
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0012759	HP:0002376	Developmental regression	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		139
HP:0012759	HP:0001249	Intellectual disability	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0012759	HP:0002376	Developmental regression	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0012759	HP:0001249	Intellectual disability	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0012759	HP:0001328	Specific learning disability	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0001249	Intellectual disability	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0012759	HP:0002376	Developmental regression	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0012759	HP:0002376	Developmental regression	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0012759	HP:0001249	Intellectual disability	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0012759	HP:0001249	Intellectual disability	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0012759	HP:0001249	Intellectual disability	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0001249	Intellectual disability	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012759	HP:0001328	Specific learning disability	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012759	HP:0001249	Intellectual disability	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0012759	HP:0001249	Intellectual disability	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0012759	HP:0002376	Developmental regression	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0001249	Intellectual disability	1	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0012759	HP:0001249	Intellectual disability	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0012759	HP:0001249	Intellectual disability	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	HP:0040283 - Occasional		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0012759	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001328	Specific learning disability	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0012759	HP:0001249	Intellectual disability	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0012759	HP:0001249	Intellectual disability	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012759	HP:0001249	Intellectual disability	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0012759	HP:0001249	Intellectual disability	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0012759	HP:0001249	Intellectual disability	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0012759	HP:0001249	Intellectual disability	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0012759	HP:0001249	Intellectual disability	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0012759	HP:0001249	Intellectual disability	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0012759	HP:0001249	Intellectual disability	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent		86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012759	HP:0002376	Developmental regression	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0012759	HP:0001249	Intellectual disability	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012759	HP:0001249	Intellectual disability	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.		237
HP:0012759	HP:0001249	Intellectual disability	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0012759	HP:0001249	Intellectual disability	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0012759	HP:0001328	Specific learning disability	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0012759	HP:0001249	Intellectual disability	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012759	HP:0001249	Intellectual disability	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		64
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0012759	HP:0001249	Intellectual disability	1	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0001328	Specific learning disability	1	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0001249	Intellectual disability	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012759	HP:0002376	Developmental regression	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.		188
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012759	HP:0002376	Developmental regression	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1			128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012759	HP:0001249	Intellectual disability	1	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA	.
HP:0012759	HP:0001249	Intellectual disability	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0012759	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0012759	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0012759	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0012759	HP:0001249	Intellectual disability	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0012759	HP:0001249	Intellectual disability	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0012759	HP:0001249	Intellectual disability	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0012759	HP:0001249	Intellectual disability	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012759	HP:0001328	Specific learning disability	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040283 - Occasional		37
HP:0012759	HP:0001249	Intellectual disability	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012759	HP:0002376	Developmental regression	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0012759	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0012759	HP:0002376	Developmental regression	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012759	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012759	HP:0002376	Developmental regression	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0012759	HP:0007281	Developmental stagnation	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0012759	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0012759	HP:0001249	Intellectual disability	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0012759	HP:0001249	Intellectual disability	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001328	Specific learning disability	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001328	Specific learning disability	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001328	Specific learning disability	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001328	Specific learning disability	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0012759	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001328	Specific learning disability	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0012759	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0012759	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0012759	HP:0001249	Intellectual disability	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		63
HP:0012759	HP:0001249	Intellectual disability	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0012759	HP:0001249	Intellectual disability	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		46
HP:0012759	HP:0001249	Intellectual disability	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0012759	HP:0002376	Developmental regression	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040283 - Occasional		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012759	HP:0001249	Intellectual disability	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.		56
HP:0012759	HP:0001249	Intellectual disability	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012759	HP:0001328	Specific learning disability	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012759	HP:0001249	Intellectual disability	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0012759	HP:0001249	Intellectual disability	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012759	HP:0002376	Developmental regression	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent		69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0012759	HP:0001249	Intellectual disability	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001328	Specific learning disability	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0012759	HP:0001249	Intellectual disability	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0012759	HP:0002376	Developmental regression	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0012759	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0012759	HP:0001249	Intellectual disability	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		36
HP:0012759	HP:0002376	Developmental regression	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0012759	HP:0001249	Intellectual disability	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0012759	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0012759	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.		7
HP:0012759	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0012759	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	HP:0040283 - Occasional		101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0012759	HP:0001249	Intellectual disability	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0002376	Developmental regression	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0012759	HP:0002376	Developmental regression	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0001249	Intellectual disability	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0001249	Intellectual disability	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0012759	HP:0001249	Intellectual disability	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	HP:0040283 - Occasional		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0012759	HP:0001249	Intellectual disability	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0012759	HP:0001249	Intellectual disability	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012759	HP:0001249	Intellectual disability	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012759	HP:0001249	Intellectual disability	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0012759	HP:0001328	Specific learning disability	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0012759	HP:0001249	Intellectual disability	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0012759	HP:0001249	Intellectual disability	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0012759	HP:0001249	Intellectual disability	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0012759	HP:0001249	Intellectual disability	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0012759	HP:0001249	Intellectual disability	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0012759	HP:0001249	Intellectual disability	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0001328	Specific learning disability	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0012759	HP:0001249	Intellectual disability	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0012759	HP:0001249	Intellectual disability	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001249	Intellectual disability	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0012759	HP:0001249	Intellectual disability	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0012759	HP:0001249	Intellectual disability	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0012759	HP:0001249	Intellectual disability	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional		99
HP:0012759	HP:0001249	Intellectual disability	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0012759	HP:0001249	Intellectual disability	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0012759	HP:0001249	Intellectual disability	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0012759	HP:0001249	Intellectual disability	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0012759	HP:0001249	Intellectual disability	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0012759	HP:0001249	Intellectual disability	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0012759	HP:0001328	Specific learning disability	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0012759	HP:0001249	Intellectual disability	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0001249	Intellectual disability	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0001249	Intellectual disability	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0001249	Intellectual disability	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0012759	HP:0001249	Intellectual disability	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0012759	HP:0001328	Specific learning disability	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040282 - Frequent		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0012759	HP:0001249	Intellectual disability	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0012759	HP:0001249	Intellectual disability	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0012759	HP:0001249	Intellectual disability	1	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6			32
HP:0012759	HP:0001249	Intellectual disability	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0012759	HP:0002376	Developmental regression	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040284 - Very rare		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0012759	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0012759	HP:0002376	Developmental regression	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0012759	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0012759	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		434
HP:0012759	HP:0002376	Developmental regression	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		434
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0012759	HP:0001328	Specific learning disability	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent		434
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0002376	Developmental regression	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0002376	Developmental regression	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent		434
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0012759	HP:0001328	Specific learning disability	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		434
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		434
HP:0012759	HP:0001328	Specific learning disability	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0002376	Developmental regression	1	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		274
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures	.		274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0012759	HP:0001249	Intellectual disability	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0002376	Developmental regression	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0001249	Intellectual disability	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0012759	HP:0001249	Intellectual disability	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040281 - Very frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0012759	HP:0001249	Intellectual disability	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0001249	Intellectual disability	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		5
HP:0012759	HP:0002376	Developmental regression	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0012759	HP:0001249	Intellectual disability	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012759	HP:0001328	Specific learning disability	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0012759	HP:0001328	Specific learning disability	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0012759	HP:0001249	Intellectual disability	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0012759	HP:0001249	Intellectual disability	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0012759	HP:0001249	Intellectual disability	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012759	HP:0001249	Intellectual disability	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0012759	HP:0001249	Intellectual disability	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0012759	HP:0001249	Intellectual disability	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0012759	HP:0001249	Intellectual disability	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0012759	HP:0001249	Intellectual disability	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0012759	HP:0001249	Intellectual disability	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0012759	HP:0002376	Developmental regression	1	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0012759	HP:0001249	Intellectual disability	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012759	HP:0001249	Intellectual disability	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0012759	HP:0001249	Intellectual disability	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0012759	HP:0001328	Specific learning disability	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0012759	HP:0001249	Intellectual disability	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012759	HP:0002376	Developmental regression	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0012759	HP:0001249	Intellectual disability	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0001249	Intellectual disability	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012759	HP:0001249	Intellectual disability	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0001249	Intellectual disability	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0012759	HP:0012758	Neurodevelopmental delay	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0012759	HP:0001249	Intellectual disability	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	HP:0040284 - Very rare		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0012759	HP:0001249	Intellectual disability	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	.		10
HP:0012759	HP:0002376	Developmental regression	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0012759	HP:0001249	Intellectual disability	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0012759	HP:0001249	Intellectual disability	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.		41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012759	HP:0001249	Intellectual disability	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012759	HP:0001328	Specific learning disability	1	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0012759	HP:0001249	Intellectual disability	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0012759	HP:0001249	Intellectual disability	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		200
HP:0012759	HP:0001249	Intellectual disability	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent		88
HP:0012759	HP:0001249	Intellectual disability	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0001328	Specific learning disability	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0012759	HP:0001249	Intellectual disability	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0012759	HP:0001249	Intellectual disability	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0012759	HP:0001249	Intellectual disability	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24	.		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0012759	HP:0001249	Intellectual disability	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0012759	HP:0002376	Developmental regression	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		54
HP:0012759	HP:0001249	Intellectual disability	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0002376	Developmental regression	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0012759	HP:0001249	Intellectual disability	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0012759	HP:0001249	Intellectual disability	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0001249	Intellectual disability	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0012759	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0012759	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0001328	Specific learning disability	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040283 - Occasional		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0012759	HP:0001249	Intellectual disability	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0012759	HP:0001249	Intellectual disability	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0001249	Intellectual disability	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0012759	HP:0001249	Intellectual disability	1	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0012759	HP:0001249	Intellectual disability	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0012759	HP:0001249	Intellectual disability	1	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation			82
HP:0012759	HP:0002376	Developmental regression	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012759	HP:0001249	Intellectual disability	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0012759	HP:0001249	Intellectual disability	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0001328	Specific learning disability	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0001249	Intellectual disability	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0012759	HP:0001249	Intellectual disability	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0012759	HP:0001249	Intellectual disability	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia			21
HP:0012759	HP:0002376	Developmental regression	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012759	HP:0002376	Developmental regression	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012759	HP:0001249	Intellectual disability	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0012759	HP:0001249	Intellectual disability	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0012759	HP:0001249	Intellectual disability	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0012759	HP:0001249	Intellectual disability	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0012759	HP:0001328	Specific learning disability	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0012759	HP:0001249	Intellectual disability	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001328	Specific learning disability	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0001249	Intellectual disability	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0002376	Developmental regression	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0012759	HP:0001249	Intellectual disability	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012759	HP:0001328	Specific learning disability	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0012759	HP:0001249	Intellectual disability	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0012759	HP:0001249	Intellectual disability	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012759	HP:0001249	Intellectual disability	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0012759	HP:0001249	Intellectual disability	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012759	HP:0001249	Intellectual disability	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0012759	HP:0001249	Intellectual disability	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0012759	HP:0001328	Specific learning disability	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0012759	HP:0001328	Specific learning disability	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0002376	Developmental regression	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0012759	HP:0001249	Intellectual disability	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0012759	HP:0002376	Developmental regression	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0012759	HP:0001249	Intellectual disability	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III			23
HP:0012759	HP:0001249	Intellectual disability	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012759	HP:0002376	Developmental regression	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012759	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency			76
HP:0012759	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0012759	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0012759	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0012759	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0012759	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012759	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0012759	HP:0001249	Intellectual disability	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012759	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	ORPHA:85295	HSD10 disease, atypical type	HP:0040281 - Very frequent		19
HP:0012759	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012759	HP:0002376	Developmental regression	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012759	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012759	HP:0002376	Developmental regression	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012759	HP:0002376	Developmental regression	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012759	HP:0001249	Intellectual disability	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0012759	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0012759	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0012759	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0012759	HP:0001328	Specific learning disability	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0012759	HP:0001249	Intellectual disability	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0012759	HP:0002376	Developmental regression	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0001249	Intellectual disability	1	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012759	HP:0001249	Intellectual disability	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0012759	HP:0001249	Intellectual disability	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012759	HP:0001249	Intellectual disability	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012759	HP:0002376	Developmental regression	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012759	HP:0001249	Intellectual disability	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0012759	HP:0002376	Developmental regression	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040284 - Very rare		86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0012759	HP:0002376	Developmental regression	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0012759	HP:0001249	Intellectual disability	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0012759	HP:0001249	Intellectual disability	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0012759	HP:0001249	Intellectual disability	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0012759	HP:0001249	Intellectual disability	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012759	HP:0002376	Developmental regression	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012759	HP:0001249	Intellectual disability	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0012759	HP:0002376	Developmental regression	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012759	HP:0001249	Intellectual disability	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0012759	HP:0001328	Specific learning disability	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0012759	HP:0001249	Intellectual disability	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0012759	HP:0001328	Specific learning disability	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0012759	HP:0002376	Developmental regression	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0012759	HP:0001249	Intellectual disability	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		148
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0012759	HP:0001249	Intellectual disability	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0012759	HP:0001249	Intellectual disability	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0012759	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0012759	HP:0001249	Intellectual disability	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0012759	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0012759	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0012759	HP:0001249	Intellectual disability	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0012759	HP:0001249	Intellectual disability	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0012759	HP:0001249	Intellectual disability	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0012759	HP:0001249	Intellectual disability	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent		268
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0012759	HP:0001249	Intellectual disability	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0012759	HP:0001249	Intellectual disability	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012759	HP:0001328	Specific learning disability	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0012759	HP:0001249	Intellectual disability	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0012759	HP:0001249	Intellectual disability	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0012759	HP:0001249	Intellectual disability	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0012759	HP:0002376	Developmental regression	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0012759	HP:0002376	Developmental regression	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012759	HP:0002376	Developmental regression	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012759	HP:0002376	Developmental regression	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0012759	HP:0001249	Intellectual disability	1	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.		1
HP:0012759	HP:0001249	Intellectual disability	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0012759	HP:0001249	Intellectual disability	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0012759	HP:0001249	Intellectual disability	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0012759	HP:0001249	Intellectual disability	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0012759	HP:0001249	Intellectual disability	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001328	Specific learning disability	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0012759	HP:0001249	Intellectual disability	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0012759	HP:0001249	Intellectual disability	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012759	HP:0001249	Intellectual disability	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0012759	HP:0001249	Intellectual disability	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0002376	Developmental regression	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0001328	Specific learning disability	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001249	Intellectual disability	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0012759	HP:0001249	Intellectual disability	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0012759	HP:0002376	Developmental regression	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0012759	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0012759	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0012759	HP:0002376	Developmental regression	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent		119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0012759	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0012759	HP:0001249	Intellectual disability	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0012759	HP:0002376	Developmental regression	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0012759	HP:0002376	Developmental regression	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040283 - Occasional		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0012759	HP:0001328	Specific learning disability	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0012759	HP:0001249	Intellectual disability	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0012759	HP:0002376	Developmental regression	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0012759	HP:0001249	Intellectual disability	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0012759	HP:0001249	Intellectual disability	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012759	HP:0001249	Intellectual disability	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0012759	HP:0001249	Intellectual disability	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0012759	HP:0001249	Intellectual disability	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia			105
HP:0012759	HP:0001249	Intellectual disability	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0012759	HP:0012758	Neurodevelopmental delay	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0012759	HP:0001249	Intellectual disability	1	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.		130
HP:0012759	HP:0001249	Intellectual disability	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0001328	Specific learning disability	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0012759	HP:0012758	Neurodevelopmental delay	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0012758	Neurodevelopmental delay	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012759	HP:0001249	Intellectual disability	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0012759	HP:0001249	Intellectual disability	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001328	Specific learning disability	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0012759	HP:0001249	Intellectual disability	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0012759	HP:0001249	Intellectual disability	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0012759	HP:0001249	Intellectual disability	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012759	HP:0002376	Developmental regression	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0001249	Intellectual disability	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0012759	HP:0001249	Intellectual disability	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0012759	HP:0001328	Specific learning disability	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0012759	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0012759	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0012759	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0012759	HP:0001249	Intellectual disability	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0012759	HP:0001249	Intellectual disability	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0012759	HP:0001249	Intellectual disability	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		145
HP:0012759	HP:0002376	Developmental regression	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0012759	HP:0001328	Specific learning disability	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0012759	HP:0001249	Intellectual disability	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0012759	HP:0001249	Intellectual disability	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0002376	Developmental regression	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0012759	HP:0001249	Intellectual disability	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0012759	HP:0001249	Intellectual disability	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0002376	Developmental regression	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0012759	HP:0001249	Intellectual disability	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0001249	Intellectual disability	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0012759	HP:0001249	Intellectual disability	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0012759	HP:0001328	Specific learning disability	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0012759	HP:0001249	Intellectual disability	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0012759	HP:0001328	Specific learning disability	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	HP:0040283 - Occasional		193
HP:0012759	HP:0001328	Specific learning disability	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0012759	HP:0001328	Specific learning disability	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0012759	HP:0001249	Intellectual disability	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0001249	Intellectual disability	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0012759	HP:0001249	Intellectual disability	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy			114
HP:0012759	HP:0001249	Intellectual disability	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0001249	Intellectual disability	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001249	Intellectual disability	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0012759	HP:0001249	Intellectual disability	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0012759	HP:0001249	Intellectual disability	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.		528
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7			528
HP:0012759	HP:0001249	Intellectual disability	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040280 - Obligate		528
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1			528
HP:0012759	HP:0001249	Intellectual disability	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0012759	HP:0001249	Intellectual disability	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0012759	HP:0001249	Intellectual disability	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	HP:0040283 - Occasional		321
HP:0012759	HP:0002376	Developmental regression	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.		321
HP:0012759	HP:0002376	Developmental regression	1	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57			1
HP:0012759	HP:0001249	Intellectual disability	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0002376	Developmental regression	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0001249	Intellectual disability	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0012759	HP:0002376	Developmental regression	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0001249	Intellectual disability	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0001249	Intellectual disability	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0001249	Intellectual disability	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0001249	Intellectual disability	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0012759	HP:0001249	Intellectual disability	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0012759	HP:0001249	Intellectual disability	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0012759	HP:0001249	Intellectual disability	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0012759	HP:0001249	Intellectual disability	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0012759	HP:0001249	Intellectual disability	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0012759	HP:0001249	Intellectual disability	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0001249	Intellectual disability	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0012759	HP:0001249	Intellectual disability	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0012759	HP:0001328	Specific learning disability	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0012759	HP:0001249	Intellectual disability	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0012759	HP:0001249	Intellectual disability	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0012759	HP:0001249	Intellectual disability	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0012759	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0012759	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012759	HP:0001249	Intellectual disability	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0012759	HP:0001249	Intellectual disability	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0012759	HP:0001249	Intellectual disability	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0012759	HP:0007281	Developmental stagnation	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0012759	HP:0001249	Intellectual disability	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0012759	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012759	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent		167
HP:0012759	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0012759	HP:0001249	Intellectual disability	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001328	Specific learning disability	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0012759	HP:0001249	Intellectual disability	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0012759	HP:0001249	Intellectual disability	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0001328	Specific learning disability	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0012759	HP:0001249	Intellectual disability	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0012759	HP:0001249	Intellectual disability	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0012759	HP:0002376	Developmental regression	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0012759	HP:0001249	Intellectual disability	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0012759	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0012759	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0012759	HP:0001249	Intellectual disability	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0012759	HP:0001249	Intellectual disability	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040281 - Very frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0012759	HP:0001249	Intellectual disability	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0012759	HP:0001249	Intellectual disability	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0012759	HP:0001249	Intellectual disability	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0012759	HP:0001249	Intellectual disability	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0012759	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0012759	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0012759	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0012759	HP:0002376	Developmental regression	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0012759	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0012759	HP:0001249	Intellectual disability	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040283 - Occasional		65
HP:0012759	HP:0001249	Intellectual disability	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040283 - Occasional		10
HP:0012759	HP:0001249	Intellectual disability	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0012759	HP:0001249	Intellectual disability	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.		134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.		134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis	HP:0040281 - Very frequent		134
HP:0012759	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0012759	HP:0001249	Intellectual disability	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012759	HP:0001249	Intellectual disability	1	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0012759	HP:0002376	Developmental regression	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0001249	Intellectual disability	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0012759	HP:0001249	Intellectual disability	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0012759	HP:0001249	Intellectual disability	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent		411
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0012759	HP:0001249	Intellectual disability	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	HP:0040283 - Occasional		411
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement			71
HP:0012759	HP:0001249	Intellectual disability	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012759	HP:0001249	Intellectual disability	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital			114
HP:0012759	HP:0001249	Intellectual disability	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0012759	HP:0001249	Intellectual disability	1	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0012759	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0012759	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.		136
HP:0012759	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0012759	HP:0001328	Specific learning disability	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0012759	HP:0001249	Intellectual disability	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0012759	HP:0001249	Intellectual disability	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001328	Specific learning disability	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0001249	Intellectual disability	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0012759	HP:0001249	Intellectual disability	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0012759	HP:0001249	Intellectual disability	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0012759	HP:0001249	Intellectual disability	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012759	HP:0001328	Specific learning disability	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0012759	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012759	HP:0002376	Developmental regression	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012759	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0012759	HP:0001249	Intellectual disability	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0012759	HP:0001249	Intellectual disability	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0012759	HP:0001249	Intellectual disability	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0012759	HP:0001249	Intellectual disability	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		88
HP:0012759	HP:0001249	Intellectual disability	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012759	HP:0001249	Intellectual disability	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0012759	HP:0001249	Intellectual disability	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	.		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0012759	HP:0001249	Intellectual disability	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012759	HP:0002376	Developmental regression	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012759	HP:0001249	Intellectual disability	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0001249	Intellectual disability	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0012759	HP:0001249	Intellectual disability	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040283 - Occasional		106
HP:0012759	HP:0001249	Intellectual disability	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0012759	HP:0001249	Intellectual disability	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	HP:0040283 - Occasional		645
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0001249	Intellectual disability	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0012759	HP:0001249	Intellectual disability	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0012759	HP:0001249	Intellectual disability	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0012759	HP:0001249	Intellectual disability	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0012759	HP:0001249	Intellectual disability	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0012759	HP:0001249	Intellectual disability	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0012759	HP:0001249	Intellectual disability	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012759	HP:0001249	Intellectual disability	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0012759	HP:0002376	Developmental regression	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0001249	Intellectual disability	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0012759	HP:0001249	Intellectual disability	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0002376	Developmental regression	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0012759	HP:0001249	Intellectual disability	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0001249	Intellectual disability	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040284 - Very rare
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0012759	HP:0001328	Specific learning disability	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0012759	HP:0001249	Intellectual disability	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0012759	HP:0001328	Specific learning disability	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0012759	HP:0001249	Intellectual disability	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012759	HP:0001249	Intellectual disability	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0012759	HP:0002376	Developmental regression	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0012759	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent		239
HP:0012759	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0012759	HP:0001328	Specific learning disability	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0012759	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0012759	HP:0001249	Intellectual disability	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001249	Intellectual disability	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012759	HP:0001249	Intellectual disability	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012759	HP:0001249	Intellectual disability	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0001249	Intellectual disability	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0001249	Intellectual disability	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0001249	Intellectual disability	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0012759	HP:0001249	Intellectual disability	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0012759	HP:0001249	Intellectual disability	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0012759	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0012759	HP:0001328	Specific learning disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0012759	HP:0001328	Specific learning disability	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0012759	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012759	HP:0001328	Specific learning disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012759	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012759	HP:0001328	Specific learning disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012759	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012759	HP:0001328	Specific learning disability	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012759	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0012759	HP:0001249	Intellectual disability	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0012759	HP:0001249	Intellectual disability	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0012759	HP:0001249	Intellectual disability	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040281 - Very frequent		93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0012759	HP:0001249	Intellectual disability	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0012759	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0012759	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0012759	HP:0001328	Specific learning disability	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0012759	HP:0001249	Intellectual disability	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012759	HP:0001249	Intellectual disability	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent		55
HP:0012759	HP:0001249	Intellectual disability	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0012759	HP:0001249	Intellectual disability	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0001328	Specific learning disability	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0012759	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012759	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012759	HP:0001249	Intellectual disability	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0012759	HP:0001328	Specific learning disability	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0012759	HP:0001249	Intellectual disability	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0012759	HP:0001249	Intellectual disability	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0012759	HP:0001249	Intellectual disability	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012759	HP:0001249	Intellectual disability	1	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		61
HP:0012759	HP:0001249	Intellectual disability	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0012759	HP:0001249	Intellectual disability	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0012759	HP:0001249	Intellectual disability	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0012759	HP:0001328	Specific learning disability	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0012759	HP:0001328	Specific learning disability	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0012759	HP:0001328	Specific learning disability	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0012759	HP:0001249	Intellectual disability	1	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012759	HP:0001249	Intellectual disability	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0012759	HP:0001249	Intellectual disability	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0012759	HP:0001249	Intellectual disability	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		21
HP:0012759	HP:0001249	Intellectual disability	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0012759	HP:0001249	Intellectual disability	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	HP:0040283 - Occasional		82
HP:0012759	HP:0001249	Intellectual disability	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0012759	HP:0001249	Intellectual disability	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0001249	Intellectual disability	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0012759	HP:0001249	Intellectual disability	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0012759	HP:0001328	Specific learning disability	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0012759	HP:0002376	Developmental regression	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0012759	HP:0001249	Intellectual disability	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0012759	HP:0001249	Intellectual disability	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012759	HP:0001249	Intellectual disability	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0012759	HP:0001249	Intellectual disability	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0012759	HP:0001249	Intellectual disability	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0001249	Intellectual disability	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012759	HP:0007281	Developmental stagnation	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012759	HP:0001249	Intellectual disability	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0012759	HP:0007281	Developmental stagnation	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0012759	HP:0001249	Intellectual disability	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0012759	HP:0001249	Intellectual disability	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.		155
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0001249	Intellectual disability	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0002376	Developmental regression	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0007281	Developmental stagnation	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.		950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0002376	Developmental regression	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0012759	HP:0002376	Developmental regression	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0012759	HP:0002376	Developmental regression	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012759	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent		228
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0012759	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0012759	HP:0001249	Intellectual disability	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0001249	Intellectual disability	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0012759	HP:0001328	Specific learning disability	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0012759	HP:0001249	Intellectual disability	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0012759	HP:0001249	Intellectual disability	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18	.		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0012759	HP:0001249	Intellectual disability	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0001249	Intellectual disability	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0002376	Developmental regression	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0001249	Intellectual disability	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0012759	HP:0001249	Intellectual disability	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0002376	Developmental regression	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0012759	HP:0001249	Intellectual disability	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0001249	Intellectual disability	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012759	HP:0001249	Intellectual disability	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012759	HP:0001249	Intellectual disability	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0012759	HP:0001249	Intellectual disability	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0012759	HP:0001249	Intellectual disability	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0012759	HP:0001249	Intellectual disability	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0001249	Intellectual disability	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0012759	HP:0001249	Intellectual disability	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0012759	HP:0001249	Intellectual disability	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0001249	Intellectual disability	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012759	HP:0002376	Developmental regression	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0012759	HP:0002376	Developmental regression	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0012759	HP:0001249	Intellectual disability	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0012759	HP:0001249	Intellectual disability	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0012759	HP:0001249	Intellectual disability	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0012759	HP:0001249	Intellectual disability	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional		11
HP:0012759	HP:0001249	Intellectual disability	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040284 - Very rare		11
HP:0012759	HP:0001249	Intellectual disability	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012759	HP:0001249	Intellectual disability	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012759	HP:0001328	Specific learning disability	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs			14
HP:0012759	HP:0001249	Intellectual disability	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0001328	Specific learning disability	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0001249	Intellectual disability	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0012759	HP:0001249	Intellectual disability	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0012759	HP:0001249	Intellectual disability	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0012759	HP:0001249	Intellectual disability	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0012759	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0012759	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0012759	HP:0001328	Specific learning disability	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0001328	Specific learning disability	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0012759	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0012759	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0012759	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0012759	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0001249	Intellectual disability	1	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			112
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			112
HP:0012759	HP:0002376	Developmental regression	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0012759	HP:0002376	Developmental regression	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012759	HP:0001249	Intellectual disability	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012759	HP:0001328	Specific learning disability	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012759	HP:0001249	Intellectual disability	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent		101
HP:0012759	HP:0002376	Developmental regression	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012759	HP:0001249	Intellectual disability	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012759	HP:0001249	Intellectual disability	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0012759	HP:0001249	Intellectual disability	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type			52
HP:0012759	HP:0001249	Intellectual disability	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0012759	HP:0001249	Intellectual disability	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012759	HP:0001249	Intellectual disability	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0012759	HP:0001249	Intellectual disability	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0012759	HP:0001249	Intellectual disability	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012759	HP:0001249	Intellectual disability	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0012759	HP:0001328	Specific learning disability	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0012759	HP:0001249	Intellectual disability	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0012759	HP:0001249	Intellectual disability	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0012759	HP:0001249	Intellectual disability	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0012759	HP:0001249	Intellectual disability	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0012759	HP:0001249	Intellectual disability	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012759	HP:0001249	Intellectual disability	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0002376	Developmental regression	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012759	HP:0002376	Developmental regression	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0012759	HP:0002376	Developmental regression	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0012759	HP:0001249	Intellectual disability	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0001249	Intellectual disability	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0012759	HP:0001249	Intellectual disability	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0012759	HP:0001249	Intellectual disability	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0012759	HP:0001328	Specific learning disability	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0012759	HP:0001249	Intellectual disability	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0012759	HP:0001249	Intellectual disability	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012759	HP:0001249	Intellectual disability	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0012759	HP:0001249	Intellectual disability	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity			183
HP:0012759	HP:0001249	Intellectual disability	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0012759	HP:0001328	Specific learning disability	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012759	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.		68
HP:0012759	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0012759	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0001328	Specific learning disability	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012759	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0012759	HP:0001249	Intellectual disability	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0012759	HP:0001249	Intellectual disability	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0012759	HP:0002376	Developmental regression	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0012759	HP:0002376	Developmental regression	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012759	HP:0001249	Intellectual disability	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0012759	HP:0001249	Intellectual disability	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0012759	HP:0001249	Intellectual disability	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0012759	HP:0001249	Intellectual disability	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012759	HP:0001249	Intellectual disability	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0012759	HP:0001249	Intellectual disability	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0012759	HP:0001328	Specific learning disability	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0012759	HP:0001249	Intellectual disability	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040284 - Very rare		35
HP:0012759	HP:0001328	Specific learning disability	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012759	HP:0001249	Intellectual disability	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0012759	HP:0001249	Intellectual disability	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0012759	HP:0001249	Intellectual disability	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012759	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040282 - Frequent		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0012759	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0012759	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0012759	HP:0001328	Specific learning disability	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012759	HP:0001249	Intellectual disability	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0012759	HP:0001249	Intellectual disability	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0012759	HP:0001249	Intellectual disability	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	HP:0040284 - Very rare		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0012759	HP:0001249	Intellectual disability	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001249	Intellectual disability	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0012759	HP:0001249	Intellectual disability	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0012759	HP:0001249	Intellectual disability	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0012759	HP:0001249	Intellectual disability	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0001249	Intellectual disability	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0001249	Intellectual disability	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012759	HP:0001249	Intellectual disability	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0012759	HP:0002376	Developmental regression	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012759	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012759	HP:0002376	Developmental regression	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012759	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0012759	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040281 - Very frequent		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0012759	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0012759	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0012759	HP:0002376	Developmental regression	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0012759	HP:0001249	Intellectual disability	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0012759	HP:0001249	Intellectual disability	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0012759	HP:0001249	Intellectual disability	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0012759	HP:0001249	Intellectual disability	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0012759	HP:0001249	Intellectual disability	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0001249	Intellectual disability	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0001249	Intellectual disability	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012759	HP:0002376	Developmental regression	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0012759	HP:0002376	Developmental regression	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012759	HP:0002376	Developmental regression	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012759	HP:0002376	Developmental regression	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0001249	Intellectual disability	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0012759	HP:0001249	Intellectual disability	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0012759	HP:0001249	Intellectual disability	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0012759	HP:0001249	Intellectual disability	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0001249	Intellectual disability	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0002376	Developmental regression	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0001328	Specific learning disability	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0002376	Developmental regression	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0002376	Developmental regression	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001328	Specific learning disability	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001328	Specific learning disability	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001328	Specific learning disability	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0012759	HP:0001249	Intellectual disability	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0012759	HP:0001249	Intellectual disability	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0012759	HP:0001249	Intellectual disability	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0012759	HP:0001249	Intellectual disability	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012759	HP:0001328	Specific learning disability	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012759	HP:0001249	Intellectual disability	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012759	HP:0001328	Specific learning disability	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012759	HP:0001249	Intellectual disability	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012759	HP:0001328	Specific learning disability	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012759	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0012759	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0012759	HP:0002376	Developmental regression	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0012759	HP:0001249	Intellectual disability	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012759	HP:0002376	Developmental regression	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0001249	Intellectual disability	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012759	HP:0001249	Intellectual disability	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012759	HP:0001249	Intellectual disability	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0012759	HP:0002376	Developmental regression	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012759	HP:0001249	Intellectual disability	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012759	HP:0001249	Intellectual disability	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012759	HP:0001249	Intellectual disability	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012759	HP:0002376	Developmental regression	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	HP:0040284 - Very rare		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012759	HP:0001249	Intellectual disability	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001328	Specific learning disability	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0012759	HP:0001249	Intellectual disability	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012759	HP:0002376	Developmental regression	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012759	HP:0002376	Developmental regression	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0002376	Developmental regression	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012759	HP:0002376	Developmental regression	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0002376	Developmental regression	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012759	HP:0002376	Developmental regression	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012759	HP:0001249	Intellectual disability	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012759	HP:0001249	Intellectual disability	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012759	HP:0002376	Developmental regression	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012759	HP:0001249	Intellectual disability	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012759	HP:0002376	Developmental regression	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0012759	HP:0001249	Intellectual disability	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002376	Developmental regression	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0012759	HP:0001249	Intellectual disability	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001328	Specific learning disability	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0012759	HP:0001249	Intellectual disability	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0001249	Intellectual disability	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0012759	HP:0001249	Intellectual disability	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0012759	HP:0002376	Developmental regression	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0012759	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0012759	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0012759	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent		43
HP:0012759	HP:0001249	Intellectual disability	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012759	HP:0001249	Intellectual disability	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0001249	Intellectual disability	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0012759	HP:0001249	Intellectual disability	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0012759	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0012759	HP:0001328	Specific learning disability	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0012759	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0012759	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0012759	HP:0001328	Specific learning disability	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0012759	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0012759	HP:0001328	Specific learning disability	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0012759	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0012759	HP:0001328	Specific learning disability	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0012759	HP:0001328	Specific learning disability	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0012759	HP:0001249	Intellectual disability	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0012759	HP:0001249	Intellectual disability	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0012759	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0012759	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0012759	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012759	HP:0002376	Developmental regression	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012759	HP:0001249	Intellectual disability	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0012759	HP:0001249	Intellectual disability	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0012759	HP:0001249	Intellectual disability	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0002376	Developmental regression	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012759	HP:0001249	Intellectual disability	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0002376	Developmental regression	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0012759	HP:0001249	Intellectual disability	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0012759	HP:0001249	Intellectual disability	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	HP:0040283 - Occasional		27
HP:0012759	HP:0001249	Intellectual disability	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0001249	Intellectual disability	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0012759	HP:0001249	Intellectual disability	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0012759	HP:0001249	Intellectual disability	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0012759	HP:0001249	Intellectual disability	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0012759	HP:0001328	Specific learning disability	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0012759	HP:0001249	Intellectual disability	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0012759	HP:0001249	Intellectual disability	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012759	HP:0001249	Intellectual disability	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0012759	HP:0001249	Intellectual disability	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary			51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0012759	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0012759	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5			90
HP:0012759	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0012759	HP:0001249	Intellectual disability	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040284 - Very rare		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20			4
HP:0012759	HP:0001249	Intellectual disability	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0012759	HP:0001249	Intellectual disability	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0012759	HP:0001249	Intellectual disability	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0012759	HP:0001249	Intellectual disability	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0001249	Intellectual disability	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001328	Specific learning disability	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001328	Specific learning disability	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001328	Specific learning disability	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001328	Specific learning disability	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0012759	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001328	Specific learning disability	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0012759	HP:0001249	Intellectual disability	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0012759	HP:0001249	Intellectual disability	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0012759	HP:0001249	Intellectual disability	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0012759	HP:0001249	Intellectual disability	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0012759	HP:0001328	Specific learning disability	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0012759	HP:0001249	Intellectual disability	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0012759	HP:0001328	Specific learning disability	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0012759	HP:0001249	Intellectual disability	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0012759	HP:0001249	Intellectual disability	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012759	HP:0001249	Intellectual disability	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0012759	HP:0001249	Intellectual disability	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0012759	HP:0001249	Intellectual disability	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		4
HP:0012759	HP:0001249	Intellectual disability	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		7
HP:0012759	HP:0001249	Intellectual disability	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0012759	HP:0001249	Intellectual disability	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0012759	HP:0001249	Intellectual disability	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0012759	HP:0001249	Intellectual disability	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0012759	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0012759	HP:0001249	Intellectual disability	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012759	HP:0001249	Intellectual disability	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012759	HP:0001249	Intellectual disability	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0012759	HP:0001249	Intellectual disability	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0012759	HP:0002376	Developmental regression	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0012759	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0012759	HP:0001328	Specific learning disability	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0012759	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012759	HP:0001328	Specific learning disability	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012759	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.		544
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0012759	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0012759	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0012759	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0012759	HP:0001249	Intellectual disability	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0001249	Intellectual disability	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		84
HP:0012759	HP:0001249	Intellectual disability	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012759	HP:0001249	Intellectual disability	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0012759	HP:0001249	Intellectual disability	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0012759	HP:0001249	Intellectual disability	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0012759	HP:0001328	Specific learning disability	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0007281	Developmental stagnation	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0002376	Developmental regression	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0001249	Intellectual disability	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent		97
HP:0012759	HP:0001328	Specific learning disability	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0012759	HP:0001249	Intellectual disability	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0012759	HP:0001249	Intellectual disability	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012759	HP:0001249	Intellectual disability	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0002376	Developmental regression	1	NTRK2 CL E G H	4915	8032	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001249	Intellectual disability	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0012759	HP:0002376	Developmental regression	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0012759	HP:0001249	Intellectual disability	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012759	HP:0001249	Intellectual disability	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0012759	HP:0002376	Developmental regression	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9			1
HP:0012759	HP:0001249	Intellectual disability	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0012759	HP:0002376	Developmental regression	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0012759	HP:0001249	Intellectual disability	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0012759	HP:0002376	Developmental regression	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0012759	HP:0007281	Developmental stagnation	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0012759	HP:0001249	Intellectual disability	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0012759	HP:0001249	Intellectual disability	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0001249	Intellectual disability	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002376	Developmental regression	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0012759	HP:0001249	Intellectual disability	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0012759	HP:0001249	Intellectual disability	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		121
HP:0012759	HP:0001249	Intellectual disability	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012759	HP:0001328	Specific learning disability	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012759	HP:0001249	Intellectual disability	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012759	HP:0001328	Specific learning disability	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012759	HP:0001249	Intellectual disability	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012759	HP:0001328	Specific learning disability	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012759	HP:0001249	Intellectual disability	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0012759	HP:0001249	Intellectual disability	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0012759	HP:0001249	Intellectual disability	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent		201
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0012759	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0012759	HP:0001249	Intellectual disability	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012759	HP:0001249	Intellectual disability	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0012759	HP:0001249	Intellectual disability	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent		163
HP:0012759	HP:0001328	Specific learning disability	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0012759	HP:0001249	Intellectual disability	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0001249	Intellectual disability	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome			55
HP:0012759	HP:0001249	Intellectual disability	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		53
HP:0012759	HP:0001328	Specific learning disability	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0012759	HP:0001249	Intellectual disability	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0012759	HP:0001249	Intellectual disability	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		21
HP:0012759	HP:0001328	Specific learning disability	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0012759	HP:0001249	Intellectual disability	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		39
HP:0012759	HP:0001328	Specific learning disability	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0001249	Intellectual disability	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0012759	HP:0001249	Intellectual disability	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012759	HP:0001249	Intellectual disability	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0012759	HP:0001249	Intellectual disability	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5			41
HP:0012759	HP:0001249	Intellectual disability	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0012758	Neurodevelopmental delay	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0001249	Intellectual disability	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0012759	HP:0001249	Intellectual disability	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0012759	HP:0001249	Intellectual disability	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome			231
HP:0012759	HP:0001249	Intellectual disability	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.		231
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1			231
HP:0012759	HP:0001249	Intellectual disability	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0012759	HP:0002376	Developmental regression	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0012759	HP:0001249	Intellectual disability	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0012759	HP:0001249	Intellectual disability	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0012759	HP:0001249	Intellectual disability	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0001249	Intellectual disability	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0012759	HP:0001249	Intellectual disability	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0001249	Intellectual disability	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0012759	HP:0001328	Specific learning disability	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6			26
HP:0012759	HP:0001249	Intellectual disability	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012759	HP:0001249	Intellectual disability	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0012759	HP:0002376	Developmental regression	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0012759	HP:0001249	Intellectual disability	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0012759	HP:0001249	Intellectual disability	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0012759	HP:0001249	Intellectual disability	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012759	HP:0001249	Intellectual disability	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0012759	HP:0001249	Intellectual disability	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0012759	HP:0001249	Intellectual disability	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		194
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional		194
HP:0012759	HP:0001249	Intellectual disability	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0012759	HP:0001249	Intellectual disability	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent		194
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0012759	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0012759	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0012759	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012759	HP:0001249	Intellectual disability	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012759	HP:0001249	Intellectual disability	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040283 - Occasional		24
HP:0012759	HP:0001249	Intellectual disability	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0012759	HP:0001249	Intellectual disability	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0012759	HP:0001249	Intellectual disability	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0012759	HP:0001249	Intellectual disability	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF			352
HP:0012759	HP:0002376	Developmental regression	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		225
HP:0012759	HP:0001249	Intellectual disability	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	HP:0040282 - Frequent		225
HP:0012759	HP:0002376	Developmental regression	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.		225
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9			225
HP:0012759	HP:0001249	Intellectual disability	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0012759	HP:0001249	Intellectual disability	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0012759	HP:0001249	Intellectual disability	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0012759	HP:0001249	Intellectual disability	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional		531
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0012759	HP:0001249	Intellectual disability	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012759	HP:0001249	Intellectual disability	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0012759	HP:0001249	Intellectual disability	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0012759	HP:0001249	Intellectual disability	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0002376	Developmental regression	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0001249	Intellectual disability	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0012759	HP:0001249	Intellectual disability	1	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0012759	HP:0001249	Intellectual disability	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0002376	Developmental regression	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0012759	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040281 - Very frequent		113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0012759	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0012759	HP:0001328	Specific learning disability	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0012759	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent		113
HP:0012759	HP:0001249	Intellectual disability	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0012759	HP:0001249	Intellectual disability	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0012759	HP:0001249	Intellectual disability	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0012759	HP:0001249	Intellectual disability	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0012759	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012759	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0012759	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012759	HP:0001249	Intellectual disability	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0012759	HP:0001249	Intellectual disability	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0012759	HP:0001249	Intellectual disability	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012759	HP:0001249	Intellectual disability	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0012759	HP:0002376	Developmental regression	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012759	HP:0001249	Intellectual disability	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012759	HP:0001249	Intellectual disability	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0012759	HP:0001249	Intellectual disability	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0012759	HP:0001249	Intellectual disability	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012759	HP:0002376	Developmental regression	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012759	HP:0001249	Intellectual disability	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0012759	HP:0002376	Developmental regression	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0012759	HP:0001249	Intellectual disability	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0012759	HP:0001249	Intellectual disability	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0012759	HP:0002376	Developmental regression	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0012759	HP:0002376	Developmental regression	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0012759	HP:0001249	Intellectual disability	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0012759	HP:0002376	Developmental regression	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0012759	HP:0001249	Intellectual disability	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0012759	HP:0002376	Developmental regression	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0012759	HP:0002376	Developmental regression	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0012759	HP:0002376	Developmental regression	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0012759	HP:0001249	Intellectual disability	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0012759	HP:0002376	Developmental regression	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0012759	HP:0002376	Developmental regression	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0012759	HP:0001249	Intellectual disability	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0012759	HP:0002376	Developmental regression	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0012759	HP:0002376	Developmental regression	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0012759	HP:0002376	Developmental regression	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0012759	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0012759	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.		99
HP:0012759	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0012759	HP:0001249	Intellectual disability	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0012759	HP:0002376	Developmental regression	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0012759	HP:0001249	Intellectual disability	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0012759	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.		72
HP:0012759	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0012759	HP:0002376	Developmental regression	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0012759	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0012759	HP:0001249	Intellectual disability	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0012759	HP:0001249	Intellectual disability	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0001249	Intellectual disability	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0012759	HP:0001249	Intellectual disability	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0012759	HP:0001249	Intellectual disability	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0012759	HP:0001249	Intellectual disability	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0012759	HP:0001249	Intellectual disability	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012759	HP:0001249	Intellectual disability	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012759	HP:0001249	Intellectual disability	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0012759	HP:0001249	Intellectual disability	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012759	HP:0002376	Developmental regression	1	PHACTR1 CL E G H	221692	20990	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0012759	HP:0001249	Intellectual disability	1	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0012759	HP:0001249	Intellectual disability	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0012759	HP:0001249	Intellectual disability	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0012759	HP:0001249	Intellectual disability	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0012759	HP:0001249	Intellectual disability	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0012759	HP:0007281	Developmental stagnation	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012759	HP:0001249	Intellectual disability	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0012759	HP:0001249	Intellectual disability	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0012759	HP:0001249	Intellectual disability	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0012759	HP:0001249	Intellectual disability	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0001249	Intellectual disability	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012759	HP:0001249	Intellectual disability	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		86
HP:0012759	HP:0001249	Intellectual disability	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0012759	HP:0002376	Developmental regression	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0012759	HP:0001328	Specific learning disability	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0012759	HP:0001249	Intellectual disability	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0001249	Intellectual disability	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0012759	HP:0001249	Intellectual disability	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012759	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0012759	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0012759	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0012759	HP:0001328	Specific learning disability	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0012759	HP:0002376	Developmental regression	1	PIGA CL E G H	5277	8957	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0012759	HP:0001249	Intellectual disability	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0012759	HP:0001249	Intellectual disability	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0001249	Intellectual disability	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0012759	HP:0001328	Specific learning disability	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0012759	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0012759	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0012759	HP:0001249	Intellectual disability	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012759	HP:0001249	Intellectual disability	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0012759	HP:0001249	Intellectual disability	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0001249	Intellectual disability	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		84
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0012759	HP:0001249	Intellectual disability	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		2
HP:0012759	HP:0002376	Developmental regression	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0012759	HP:0001249	Intellectual disability	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0012759	HP:0001249	Intellectual disability	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0012759	HP:0002376	Developmental regression	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0001249	Intellectual disability	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0012759	HP:0002376	Developmental regression	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0012759	HP:0001249	Intellectual disability	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0001249	Intellectual disability	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012759	HP:0001249	Intellectual disability	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0012759	HP:0001249	Intellectual disability	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0012759	HP:0001249	Intellectual disability	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0012759	HP:0002376	Developmental regression	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012759	HP:0001249	Intellectual disability	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0012759	HP:0001328	Specific learning disability	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0012759	HP:0002376	Developmental regression	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0012759	HP:0001249	Intellectual disability	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012759	HP:0001249	Intellectual disability	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0012759	HP:0001249	Intellectual disability	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012759	HP:0001249	Intellectual disability	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0012759	HP:0001328	Specific learning disability	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0012759	HP:0002376	Developmental regression	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040281 - Very frequent		133
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0012759	HP:0001249	Intellectual disability	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0012759	HP:0002376	Developmental regression	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0012759	HP:0001249	Intellectual disability	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012759	HP:0001249	Intellectual disability	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0012759	HP:0002376	Developmental regression	1	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12			119
HP:0012759	HP:0002376	Developmental regression	1	PLCB1 CL E G H	23236	15917	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0012759	HP:0001249	Intellectual disability	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0012759	HP:0001328	Specific learning disability	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q			759
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0012759	HP:0001249	Intellectual disability	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012759	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0012759	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0012759	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012759	HP:0002376	Developmental regression	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0012759	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent		60
HP:0012759	HP:0001249	Intellectual disability	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012759	HP:0001249	Intellectual disability	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012759	HP:0001249	Intellectual disability	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0012759	HP:0001249	Intellectual disability	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0012759	HP:0001328	Specific learning disability	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012759	HP:0001249	Intellectual disability	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0012759	HP:0001249	Intellectual disability	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0012759	HP:0002376	Developmental regression	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012759	HP:0002376	Developmental regression	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0012759	HP:0002376	Developmental regression	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0012759	HP:0001328	Specific learning disability	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0012759	HP:0001249	Intellectual disability	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		244
HP:0012759	HP:0002376	Developmental regression	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		244
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0012759	HP:0001249	Intellectual disability	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0001249	Intellectual disability	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0012759	HP:0001249	Intellectual disability	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional		65
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.		103
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0012759	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012759	HP:0002376	Developmental regression	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0012759	HP:0001249	Intellectual disability	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0012759	HP:0001249	Intellectual disability	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040281 - Very frequent		35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0012759	HP:0001249	Intellectual disability	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0012759	HP:0001249	Intellectual disability	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012759	HP:0002376	Developmental regression	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0012759	HP:0001249	Intellectual disability	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012759	HP:0002376	Developmental regression	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0012759	HP:0001249	Intellectual disability	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		464
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0012759	HP:0001249	Intellectual disability	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.		38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0012759	HP:0007281	Developmental stagnation	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0002376	Developmental regression	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0012759	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0012759	HP:0002376	Developmental regression	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0012759	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012759	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0012759	HP:0001249	Intellectual disability	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0002376	Developmental regression	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0012759	HP:0001249	Intellectual disability	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0002376	Developmental regression	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012759	HP:0002376	Developmental regression	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0001249	Intellectual disability	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.		180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0012759	HP:0001328	Specific learning disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0012759	HP:0001249	Intellectual disability	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001328	Specific learning disability	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0012759	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0012759	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0001328	Specific learning disability	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent		213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0012759	HP:0001328	Specific learning disability	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0012759	HP:0001328	Specific learning disability	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent		221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2			221
HP:0012759	HP:0001328	Specific learning disability	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent		221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0012759	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0012759	HP:0001328	Specific learning disability	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0012759	HP:0001249	Intellectual disability	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0012759	HP:0001249	Intellectual disability	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0012759	HP:0001249	Intellectual disability	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0012759	HP:0001249	Intellectual disability	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012759	HP:0001249	Intellectual disability	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0012759	HP:0001249	Intellectual disability	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012759	HP:0012758	Neurodevelopmental delay	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012759	HP:0001249	Intellectual disability	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0012759	HP:0001249	Intellectual disability	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0001249	Intellectual disability	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0001249	Intellectual disability	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0012759	HP:0001249	Intellectual disability	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0012759	HP:0001249	Intellectual disability	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012759	HP:0001249	Intellectual disability	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0012759	HP:0001249	Intellectual disability	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012759	HP:0001249	Intellectual disability	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012759	HP:0001249	Intellectual disability	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0001249	Intellectual disability	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0012759	HP:0001249	Intellectual disability	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0012759	HP:0002376	Developmental regression	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012759	HP:0001249	Intellectual disability	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0002376	Developmental regression	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0012759	HP:0001249	Intellectual disability	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0012759	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0012759	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0012759	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0012759	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0012759	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0012759	HP:0001249	Intellectual disability	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0012759	HP:0001249	Intellectual disability	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0012759	HP:0001249	Intellectual disability	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0012759	HP:0001249	Intellectual disability	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0012759	HP:0001249	Intellectual disability	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012759	HP:0001249	Intellectual disability	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012759	HP:0001249	Intellectual disability	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		133
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0001249	Intellectual disability	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0012759	HP:0001249	Intellectual disability	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0012759	HP:0001249	Intellectual disability	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0012759	HP:0001328	Specific learning disability	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0012759	HP:0001328	Specific learning disability	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0012759	HP:0001249	Intellectual disability	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0012759	HP:0001249	Intellectual disability	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040284 - Very rare		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0012759	HP:0001249	Intellectual disability	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0012759	HP:0001249	Intellectual disability	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0001328	Specific learning disability	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0012759	HP:0001328	Specific learning disability	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive			65
HP:0012759	HP:0001249	Intellectual disability	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0012759	HP:0001249	Intellectual disability	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012759	HP:0001249	Intellectual disability	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0012759	HP:0001249	Intellectual disability	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012759	HP:0001249	Intellectual disability	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0012759	HP:0001249	Intellectual disability	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0012759	HP:0001249	Intellectual disability	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0012759	HP:0001249	Intellectual disability	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0012759	HP:0001249	Intellectual disability	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0012759	HP:0001249	Intellectual disability	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0012759	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012759	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012759	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.		49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0012759	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent		49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0012759	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0012759	HP:0001249	Intellectual disability	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0001249	Intellectual disability	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		94
HP:0012759	HP:0001249	Intellectual disability	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		94
HP:0012759	HP:0001328	Specific learning disability	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		94
HP:0012759	HP:0001249	Intellectual disability	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0012759	HP:0001249	Intellectual disability	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0001249	Intellectual disability	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012759	HP:0002376	Developmental regression	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0012759	HP:0002376	Developmental regression	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0012759	HP:0002376	Developmental regression	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0012759	HP:0002376	Developmental regression	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0012759	HP:0002376	Developmental regression	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0012759	HP:0001328	Specific learning disability	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0012759	HP:0001249	Intellectual disability	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0012759	HP:0001328	Specific learning disability	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0012759	HP:0001249	Intellectual disability	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0012759	HP:0001249	Intellectual disability	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0001249	Intellectual disability	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012759	HP:0001249	Intellectual disability	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0012759	HP:0001249	Intellectual disability	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0012759	HP:0001328	Specific learning disability	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012759	HP:0001249	Intellectual disability	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012759	HP:0001249	Intellectual disability	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.		54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency			54
HP:0012759	HP:0002376	Developmental regression	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001328	Specific learning disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001328	Specific learning disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001328	Specific learning disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001328	Specific learning disability	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001328	Specific learning disability	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0012759	HP:0001249	Intellectual disability	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0012759	HP:0001249	Intellectual disability	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		40
HP:0012759	HP:0001249	Intellectual disability	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.		34
HP:0012759	HP:0001249	Intellectual disability	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0012759	HP:0001249	Intellectual disability	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0012759	HP:0001328	Specific learning disability	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0012759	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0012759	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0012759	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012759	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0012759	HP:0007281	Developmental stagnation	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84			7
HP:0012759	HP:0001249	Intellectual disability	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012759	HP:0001249	Intellectual disability	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0012759	HP:0001249	Intellectual disability	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0012759	HP:0001249	Intellectual disability	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012759	HP:0001249	Intellectual disability	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0012759	HP:0001249	Intellectual disability	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0012759	HP:0001249	Intellectual disability	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0012759	HP:0001249	Intellectual disability	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0012759	HP:0001249	Intellectual disability	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0012759	HP:0001249	Intellectual disability	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0001249	Intellectual disability	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012759	HP:0001328	Specific learning disability	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001328	Specific learning disability	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0012759	HP:0001249	Intellectual disability	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0012759	HP:0001249	Intellectual disability	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0012759	HP:0001249	Intellectual disability	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0012759	HP:0001249	Intellectual disability	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0012759	HP:0002376	Developmental regression	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0012759	HP:0001249	Intellectual disability	1	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency	HP:0040281 - Very frequent		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency			43
HP:0012759	HP:0001249	Intellectual disability	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0012759	HP:0001249	Intellectual disability	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012759	HP:0001249	Intellectual disability	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0012759	HP:0001249	Intellectual disability	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0001249	Intellectual disability	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		31
HP:0012759	HP:0001249	Intellectual disability	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0012759	HP:0001249	Intellectual disability	1	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001249	Intellectual disability	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0012759	HP:0001249	Intellectual disability	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0012759	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0012759	HP:0001249	Intellectual disability	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0001249	Intellectual disability	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0012759	HP:0001249	Intellectual disability	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040281 - Very frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012759	HP:0001249	Intellectual disability	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0012759	HP:0001249	Intellectual disability	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0012759	HP:0001249	Intellectual disability	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0012759	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0012759	HP:0001328	Specific learning disability	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional		9
HP:0012759	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0012759	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.		9
HP:0012759	HP:0001249	Intellectual disability	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0012759	HP:0001249	Intellectual disability	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0012759	HP:0001249	Intellectual disability	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0012759	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012759	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0012759	HP:0001249	Intellectual disability	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0001249	Intellectual disability	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0012759	HP:0002376	Developmental regression	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0012759	HP:0001249	Intellectual disability	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0001249	Intellectual disability	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional		9
HP:0012759	HP:0001249	Intellectual disability	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0012759	HP:0001249	Intellectual disability	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012759	HP:0007281	Developmental stagnation	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012759	HP:0001249	Intellectual disability	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0012759	HP:0001249	Intellectual disability	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0012759	HP:0001249	Intellectual disability	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0001249	Intellectual disability	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0012759	HP:0001249	Intellectual disability	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012759	HP:0001249	Intellectual disability	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0012759	HP:0001249	Intellectual disability	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0012759	HP:0001249	Intellectual disability	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0001249	Intellectual disability	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0012759	HP:0001249	Intellectual disability	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		95
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0012759	HP:0001328	Specific learning disability	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0012759	HP:0001249	Intellectual disability	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0012759	HP:0001249	Intellectual disability	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0012759	HP:0002376	Developmental regression	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0012759	HP:0001249	Intellectual disability	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012759	HP:0001249	Intellectual disability	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		334
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0012759	HP:0012758	Neurodevelopmental delay	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0012759	HP:0001249	Intellectual disability	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012759	HP:0001249	Intellectual disability	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		572
HP:0012759	HP:0001249	Intellectual disability	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB			572
HP:0012759	HP:0012758	Neurodevelopmental delay	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0012759	HP:0001249	Intellectual disability	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0012759	HP:0001249	Intellectual disability	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0012759	HP:0001249	Intellectual disability	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0012759	HP:0001249	Intellectual disability	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0012759	HP:0001249	Intellectual disability	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0012759	HP:0002376	Developmental regression	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0012759	HP:0001249	Intellectual disability	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012759	HP:0001249	Intellectual disability	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent		69
HP:0012759	HP:0001249	Intellectual disability	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012759	HP:0001249	Intellectual disability	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0012759	HP:0001249	Intellectual disability	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012759	HP:0001249	Intellectual disability	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0012759	HP:0001249	Intellectual disability	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012759	HP:0002376	Developmental regression	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012759	HP:0001249	Intellectual disability	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012759	HP:0002376	Developmental regression	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012759	HP:0002376	Developmental regression	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0012759	HP:0001249	Intellectual disability	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0012759	HP:0001249	Intellectual disability	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012759	HP:0001249	Intellectual disability	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012759	HP:0001249	Intellectual disability	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0012759	HP:0001328	Specific learning disability	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0012759	HP:0001249	Intellectual disability	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0001249	Intellectual disability	1	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		14
HP:0012759	HP:0001249	Intellectual disability	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0012759	HP:0001328	Specific learning disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0012759	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0012759	HP:0001249	Intellectual disability	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0002376	Developmental regression	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012759	HP:0001249	Intellectual disability	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0001249	Intellectual disability	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0012759	HP:0002376	Developmental regression	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0001249	Intellectual disability	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0012759	HP:0002376	Developmental regression	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0012759	HP:0001249	Intellectual disability	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0012759	HP:0001249	Intellectual disability	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0012759	HP:0001249	Intellectual disability	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0012759	HP:0001249	Intellectual disability	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0012759	HP:0001249	Intellectual disability	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0012759	HP:0001249	Intellectual disability	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0012759	HP:0001249	Intellectual disability	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0012759	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0012759	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0012759	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0012759	HP:0001249	Intellectual disability	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0012759	HP:0001249	Intellectual disability	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		109
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0012759	HP:0001249	Intellectual disability	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0012759	HP:0001249	Intellectual disability	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0012759	HP:0001249	Intellectual disability	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0012759	HP:0001249	Intellectual disability	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0001249	Intellectual disability	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0012759	HP:0001249	Intellectual disability	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0012759	HP:0002376	Developmental regression	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0012759	HP:0001328	Specific learning disability	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0012759	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0012759	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0012759	HP:0001249	Intellectual disability	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0012759	HP:0001249	Intellectual disability	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		125
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012759	HP:0001249	Intellectual disability	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0012759	HP:0001249	Intellectual disability	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0012759	HP:0001249	Intellectual disability	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5			77
HP:0012759	HP:0001249	Intellectual disability	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0012759	HP:0001249	Intellectual disability	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0012759	HP:0001249	Intellectual disability	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012759	HP:0001249	Intellectual disability	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012759	HP:0001249	Intellectual disability	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0012759	HP:0001249	Intellectual disability	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0012759	HP:0001249	Intellectual disability	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0012759	HP:0001249	Intellectual disability	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0012759	HP:0001249	Intellectual disability	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0012759	HP:0001249	Intellectual disability	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0001249	Intellectual disability	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0012759	HP:0001249	Intellectual disability	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001328	Specific learning disability	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012759	HP:0001249	Intellectual disability	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012759	HP:0012758	Neurodevelopmental delay	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0012759	HP:0001249	Intellectual disability	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0012759	HP:0001249	Intellectual disability	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0012759	HP:0001249	Intellectual disability	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0012759	HP:0001249	Intellectual disability	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0012759	HP:0001249	Intellectual disability	1	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012759	HP:0002376	Developmental regression	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0012759	HP:0001249	Intellectual disability	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.		8
HP:0012759	HP:0001249	Intellectual disability	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0012759	HP:0001328	Specific learning disability	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0012759	HP:0001249	Intellectual disability	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0012759	HP:0001249	Intellectual disability	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0012759	HP:0001249	Intellectual disability	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0012759	HP:0001249	Intellectual disability	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0002376	Developmental regression	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0001249	Intellectual disability	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0002376	Developmental regression	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0007281	Developmental stagnation	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0012759	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0012759	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040281 - Very frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0012759	HP:0001249	Intellectual disability	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		26
HP:0012759	HP:0001249	Intellectual disability	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0012759	HP:0001328	Specific learning disability	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0012759	HP:0001328	Specific learning disability	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012759	HP:0001249	Intellectual disability	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0012759	HP:0001328	Specific learning disability	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent		80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0012759	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0012759	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0012759	HP:0001249	Intellectual disability	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		77
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII			19
HP:0012759	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0002376	Developmental regression	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		1053
HP:0012759	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0002376	Developmental regression	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		1053
HP:0012759	HP:0002376	Developmental regression	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		1053
HP:0012759	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		1053
HP:0012759	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		1053
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0012759	HP:0002376	Developmental regression	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		126
HP:0012759	HP:0001249	Intellectual disability	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		126
HP:0012759	HP:0002376	Developmental regression	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0012759	HP:0007281	Developmental stagnation	1	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.		126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52			126
HP:0012759	HP:0002376	Developmental regression	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		126
HP:0012759	HP:0002376	Developmental regression	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		427
HP:0012759	HP:0001249	Intellectual disability	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		427
HP:0012759	HP:0002376	Developmental regression	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		427
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11			427
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0012759	HP:0002376	Developmental regression	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		427
HP:0012759	HP:0002376	Developmental regression	1	SCN2A CL E G H	6326	10588	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		427
HP:0012759	HP:0001249	Intellectual disability	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0012759	HP:0001249	Intellectual disability	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0012759	HP:0002376	Developmental regression	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0012759	HP:0001249	Intellectual disability	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0012759	HP:0001249	Intellectual disability	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0012759	HP:0001249	Intellectual disability	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.		357
HP:0012759	HP:0002376	Developmental regression	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.		357
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0012759	HP:0001249	Intellectual disability	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0012759	HP:0002376	Developmental regression	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0012759	HP:0002376	Developmental regression	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent		318
HP:0012759	HP:0002376	Developmental regression	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		318
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012759	HP:0001249	Intellectual disability	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0012759	HP:0002376	Developmental regression	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0012759	HP:0001249	Intellectual disability	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0012759	HP:0001249	Intellectual disability	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0012759	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0012759	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0012759	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0012759	HP:0002376	Developmental regression	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0012759	HP:0001249	Intellectual disability	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012759	HP:0002376	Developmental regression	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012759	HP:0002376	Developmental regression	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0012759	HP:0002376	Developmental regression	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0012759	HP:0001249	Intellectual disability	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0012759	HP:0002376	Developmental regression	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0012759	HP:0002376	Developmental regression	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0001249	Intellectual disability	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0012759	HP:0001249	Intellectual disability	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0012759	HP:0002376	Developmental regression	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0012759	HP:0002376	Developmental regression	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0012759	HP:0001249	Intellectual disability	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0012759	HP:0001249	Intellectual disability	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012759	HP:0001249	Intellectual disability	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012759	HP:0001249	Intellectual disability	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0002376	Developmental regression	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0012759	HP:0001249	Intellectual disability	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0012759	HP:0001249	Intellectual disability	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0012759	HP:0002376	Developmental regression	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0012759	HP:0001249	Intellectual disability	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0012759	HP:0001249	Intellectual disability	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0012759	HP:0001249	Intellectual disability	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0002376	Developmental regression	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0012759	HP:0001249	Intellectual disability	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0012759	HP:0001249	Intellectual disability	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012759	HP:0002376	Developmental regression	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012759	HP:0001249	Intellectual disability	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0012759	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0012759	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0012759	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent		143
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012759	HP:0001249	Intellectual disability	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0001249	Intellectual disability	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0001249	Intellectual disability	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0012759	HP:0001249	Intellectual disability	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012759	HP:0001328	Specific learning disability	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012759	HP:0001249	Intellectual disability	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040281 - Very frequent		43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0012759	HP:0001249	Intellectual disability	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0001249	Intellectual disability	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0012759	HP:0001249	Intellectual disability	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0012759	HP:0002376	Developmental regression	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012759	HP:0001249	Intellectual disability	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0012759	HP:0001249	Intellectual disability	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001328	Specific learning disability	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012759	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012759	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012759	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15			53
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0012759	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0012759	HP:0001328	Specific learning disability	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0012759	HP:0001249	Intellectual disability	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0001249	Intellectual disability	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional		74
HP:0012759	HP:0001249	Intellectual disability	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012759	HP:0001249	Intellectual disability	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0012759	HP:0001249	Intellectual disability	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		11
HP:0012759	HP:0002376	Developmental regression	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0012759	HP:0002376	Developmental regression	1	SIK1 CL E G H	150094	11142	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0001249	Intellectual disability	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0012759	HP:0001328	Specific learning disability	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0012759	HP:0001249	Intellectual disability	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0012759	HP:0001328	Specific learning disability	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0012759	HP:0001249	Intellectual disability	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0001328	Specific learning disability	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0001249	Intellectual disability	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0012759	HP:0001249	Intellectual disability	1	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0012759	HP:0001249	Intellectual disability	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0002376	Developmental regression	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0001249	Intellectual disability	1	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0001328	Specific learning disability	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0012759	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0012759	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0012759	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001249	Intellectual disability	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0001249	Intellectual disability	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0012759	HP:0001249	Intellectual disability	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34	.		8
HP:0012759	HP:0002376	Developmental regression	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0012759	HP:0001249	Intellectual disability	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012759	HP:0001249	Intellectual disability	1	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040281 - Very frequent		163
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0012759	HP:0001249	Intellectual disability	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0012759	HP:0002376	Developmental regression	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0012759	HP:0001249	Intellectual disability	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0002376	Developmental regression	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0012759	HP:0001249	Intellectual disability	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012759	HP:0001249	Intellectual disability	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0001249	Intellectual disability	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0012759	HP:0001249	Intellectual disability	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0012759	HP:0001249	Intellectual disability	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012759	HP:0002376	Developmental regression	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria	.		71
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012759	HP:0002376	Developmental regression	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0002376	Developmental regression	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012759	HP:0001249	Intellectual disability	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0001328	Specific learning disability	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0001328	Specific learning disability	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent		88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0012759	HP:0002376	Developmental regression	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012759	HP:0001249	Intellectual disability	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012759	HP:0002376	Developmental regression	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0012759	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0012759	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0012759	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0012759	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0012759	HP:0001249	Intellectual disability	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0012759	HP:0002376	Developmental regression	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0012759	HP:0001249	Intellectual disability	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0012759	HP:0001328	Specific learning disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	HP:0040283 - Occasional		255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0012759	HP:0001328	Specific learning disability	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent		255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		255
HP:0012759	HP:0001328	Specific learning disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0012759	HP:0001249	Intellectual disability	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0012759	HP:0001328	Specific learning disability	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0012759	HP:0001328	Specific learning disability	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0012759	HP:0002376	Developmental regression	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012759	HP:0001249	Intellectual disability	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0012759	HP:0001249	Intellectual disability	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0001249	Intellectual disability	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040281 - Very frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0012759	HP:0001249	Intellectual disability	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0012759	HP:0001249	Intellectual disability	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012759	HP:0001249	Intellectual disability	1	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012759	HP:0001249	Intellectual disability	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0001249	Intellectual disability	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0012759	HP:0001249	Intellectual disability	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0002376	Developmental regression	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0012759	HP:0002376	Developmental regression	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0012759	HP:0001249	Intellectual disability	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0012759	HP:0001249	Intellectual disability	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0012759	HP:0001249	Intellectual disability	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0012759	HP:0001249	Intellectual disability	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0012759	HP:0001249	Intellectual disability	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.		89
HP:0012759	HP:0001249	Intellectual disability	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0012759	HP:0001249	Intellectual disability	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0012759	HP:0001249	Intellectual disability	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0012759	HP:0001249	Intellectual disability	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	.		29
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.		12
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.		96
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		81
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0012759	HP:0001249	Intellectual disability	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040281 - Very frequent		122
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0012759	HP:0001249	Intellectual disability	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0012759	HP:0001249	Intellectual disability	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0012759	HP:0002376	Developmental regression	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0012759	HP:0001249	Intellectual disability	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0012759	HP:0001249	Intellectual disability	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0012759	HP:0001249	Intellectual disability	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0012759	HP:0001249	Intellectual disability	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0012759	HP:0001249	Intellectual disability	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0012759	HP:0001328	Specific learning disability	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7	.		33
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0012759	HP:0001328	Specific learning disability	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0012759	HP:0001249	Intellectual disability	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012759	HP:0002376	Developmental regression	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040284 - Very rare		74
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0012759	HP:0001249	Intellectual disability	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0012759	HP:0001249	Intellectual disability	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0012759	HP:0001249	Intellectual disability	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0012759	HP:0001249	Intellectual disability	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0001249	Intellectual disability	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0012759	HP:0001249	Intellectual disability	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0012759	HP:0001249	Intellectual disability	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0002376	Developmental regression	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0007281	Developmental stagnation	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0012759	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0012759	HP:0001328	Specific learning disability	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0012759	HP:0001249	Intellectual disability	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0012759	HP:0001249	Intellectual disability	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0012759	HP:0001249	Intellectual disability	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0012759	HP:0001249	Intellectual disability	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0012759	HP:0001249	Intellectual disability	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0012759	HP:0001249	Intellectual disability	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0012759	HP:0001249	Intellectual disability	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0012759	HP:0001328	Specific learning disability	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0012759	HP:0001249	Intellectual disability	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0012759	HP:0002376	Developmental regression	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012759	HP:0001249	Intellectual disability	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0012759	HP:0001249	Intellectual disability	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012759	HP:0001249	Intellectual disability	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0012759	HP:0001249	Intellectual disability	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0001249	Intellectual disability	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent		94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0012759	HP:0001249	Intellectual disability	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0012759	HP:0001328	Specific learning disability	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001328	Specific learning disability	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0012759	HP:0001249	Intellectual disability	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0012759	HP:0001249	Intellectual disability	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012759	HP:0001328	Specific learning disability	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012759	HP:0001328	Specific learning disability	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012759	HP:0001328	Specific learning disability	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012759	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0012759	HP:0001249	Intellectual disability	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0001249	Intellectual disability	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012759	HP:0001249	Intellectual disability	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040280 - Obligate		12
HP:0012759	HP:0002376	Developmental regression	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0002376	Developmental regression	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0012759	HP:0001249	Intellectual disability	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0012759	HP:0001249	Intellectual disability	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent		26
HP:0012759	HP:0001249	Intellectual disability	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012759	HP:0001249	Intellectual disability	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0012759	HP:0001249	Intellectual disability	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0012759	HP:0001249	Intellectual disability	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0012759	HP:0001328	Specific learning disability	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0012759	HP:0001249	Intellectual disability	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012759	HP:0001249	Intellectual disability	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0012759	HP:0001249	Intellectual disability	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012759	HP:0001249	Intellectual disability	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040281 - Very frequent		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0012759	HP:0001249	Intellectual disability	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0001249	Intellectual disability	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0012759	HP:0001249	Intellectual disability	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040280 - Obligate		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0012759	HP:0001249	Intellectual disability	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0012759	HP:0001249	Intellectual disability	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0012759	HP:0001328	Specific learning disability	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0012759	HP:0001249	Intellectual disability	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0012759	HP:0001249	Intellectual disability	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040284 - Very rare		208
HP:0012759	HP:0001249	Intellectual disability	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0012759	HP:0001249	Intellectual disability	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012759	HP:0001249	Intellectual disability	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0012759	HP:0001249	Intellectual disability	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0012759	HP:0001249	Intellectual disability	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0012759	HP:0001249	Intellectual disability	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0001249	Intellectual disability	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012759	HP:0001328	Specific learning disability	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent		287
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012759	HP:0001249	Intellectual disability	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	HP:0003584 - Late onset	287
HP:0012759	HP:0001328	Specific learning disability	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0012759	HP:0001328	Specific learning disability	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare		171
HP:0012759	HP:0001249	Intellectual disability	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent		100
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0012759	HP:0001249	Intellectual disability	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0001249	Intellectual disability	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0001249	Intellectual disability	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0012759	HP:0001249	Intellectual disability	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0012759	HP:0001328	Specific learning disability	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0012759	HP:0001328	Specific learning disability	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0012759	HP:0001249	Intellectual disability	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012759	HP:0001249	Intellectual disability	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0012759	HP:0002376	Developmental regression	1	SPTAN1 CL E G H	6709	11273	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		416
HP:0012759	HP:0001249	Intellectual disability	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001328	Specific learning disability	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0002376	Developmental regression	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001249	Intellectual disability	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0012759	HP:0001249	Intellectual disability	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012759	HP:0001328	Specific learning disability	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0012759	HP:0001328	Specific learning disability	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0012759	HP:0001249	Intellectual disability	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0012759	HP:0001249	Intellectual disability	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012759	HP:0001249	Intellectual disability	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0012759	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0012759	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent		80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0012759	HP:0001249	Intellectual disability	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0012759	HP:0001249	Intellectual disability	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0012759	HP:0001328	Specific learning disability	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0012759	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0012759	HP:0001328	Specific learning disability	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0012759	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0012759	HP:0001328	Specific learning disability	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		50
HP:0012759	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia			50
HP:0012759	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		50
HP:0012759	HP:0001328	Specific learning disability	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0012759	HP:0001249	Intellectual disability	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0012759	HP:0001328	Specific learning disability	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0012759	HP:0001249	Intellectual disability	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0012759	HP:0001249	Intellectual disability	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040280 - Obligate		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0012759	HP:0001249	Intellectual disability	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0012759	HP:0002376	Developmental regression	1	ST3GAL3 CL E G H	6487	10866	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		41
HP:0012759	HP:0001249	Intellectual disability	1	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12	.		41
HP:0012759	HP:0002376	Developmental regression	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0012759	HP:0007281	Developmental stagnation	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0012759	HP:0001249	Intellectual disability	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	HP:0040283 - Occasional		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0012759	HP:0001249	Intellectual disability	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0012759	HP:0001249	Intellectual disability	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012759	HP:0001249	Intellectual disability	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0012759	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0012759	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0012759	HP:0001249	Intellectual disability	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0012759	HP:0001249	Intellectual disability	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012759	HP:0001249	Intellectual disability	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0012759	HP:0002376	Developmental regression	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001328	Specific learning disability	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001328	Specific learning disability	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001328	Specific learning disability	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001328	Specific learning disability	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0012759	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001328	Specific learning disability	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0012759	HP:0001328	Specific learning disability	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0012759	HP:0001249	Intellectual disability	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent		71
HP:0012759	HP:0001249	Intellectual disability	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0012759	HP:0001249	Intellectual disability	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0012759	HP:0001249	Intellectual disability	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked			19
HP:0012759	HP:0001249	Intellectual disability	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040282 - Frequent		19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0012759	HP:0001249	Intellectual disability	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0012759	HP:0001249	Intellectual disability	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0012759	HP:0001249	Intellectual disability	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0012759	HP:0001249	Intellectual disability	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0012759	HP:0001249	Intellectual disability	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012759	HP:0001249	Intellectual disability	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9			9
HP:0012759	HP:0002376	Developmental regression	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0012759	HP:0001249	Intellectual disability	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012759	HP:0001249	Intellectual disability	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0002376	Developmental regression	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0012759	HP:0012758	Neurodevelopmental delay	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0001249	Intellectual disability	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012759	HP:0001249	Intellectual disability	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0012759	HP:0001249	Intellectual disability	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012759	HP:0001249	Intellectual disability	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0012759	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		124
HP:0012759	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0012759	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0012759	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0012759	HP:0001328	Specific learning disability	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012759	HP:0001249	Intellectual disability	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0012759	HP:0001249	Intellectual disability	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0012759	HP:0002376	Developmental regression	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012759	HP:0001249	Intellectual disability	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0001249	Intellectual disability	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0002376	Developmental regression	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012759	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012759	HP:0002376	Developmental regression	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012759	HP:0001249	Intellectual disability	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0012759	HP:0001249	Intellectual disability	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012759	HP:0001328	Specific learning disability	1	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.		58
HP:0012759	HP:0001249	Intellectual disability	1	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50			58
HP:0012759	HP:0001328	Specific learning disability	1	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0040281 - Very frequent		58
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0012759	HP:0001249	Intellectual disability	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0012759	HP:0001249	Intellectual disability	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0012759	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0012759	HP:0002376	Developmental regression	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0012759	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0012759	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0002376	Developmental regression	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0012759	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0012759	HP:0002376	Developmental regression	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0012759	HP:0001249	Intellectual disability	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0012759	HP:0001249	Intellectual disability	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0012759	HP:0001249	Intellectual disability	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0012759	HP:0002376	Developmental regression	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0012759	HP:0001249	Intellectual disability	1	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0012759	HP:0001249	Intellectual disability	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0012759	HP:0001249	Intellectual disability	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0012759	HP:0002376	Developmental regression	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0012759	HP:0012758	Neurodevelopmental delay	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0012759	HP:0001249	Intellectual disability	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0012759	HP:0001249	Intellectual disability	1	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia			6
HP:0012759	HP:0001249	Intellectual disability	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012759	HP:0001249	Intellectual disability	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0012759	HP:0001249	Intellectual disability	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0001249	Intellectual disability	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0012759	HP:0001249	Intellectual disability	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0012759	HP:0001249	Intellectual disability	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012759	HP:0001249	Intellectual disability	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012759	HP:0001249	Intellectual disability	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0012759	HP:0001249	Intellectual disability	1	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0002376	Developmental regression	1	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0001249	Intellectual disability	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012759	HP:0001249	Intellectual disability	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent		12
HP:0012759	HP:0002376	Developmental regression	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0001328	Specific learning disability	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0012759	HP:0001249	Intellectual disability	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.		43
HP:0012759	HP:0001249	Intellectual disability	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040281 - Very frequent		43
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0012759	HP:0002376	Developmental regression	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0012759	HP:0002376	Developmental regression	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent		271
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0012759	HP:0002376	Developmental regression	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0012759	HP:0001249	Intellectual disability	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0012759	HP:0001249	Intellectual disability	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012759	HP:0002376	Developmental regression	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012759	HP:0001249	Intellectual disability	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0002376	Developmental regression	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent		52
HP:0012759	HP:0002376	Developmental regression	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent		52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0012759	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0012759	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0012759	HP:0002376	Developmental regression	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0002376	Developmental regression	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0012759	HP:0001328	Specific learning disability	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0012759	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0012759	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0012759	HP:0001249	Intellectual disability	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0012759	HP:0001328	Specific learning disability	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0012759	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0012759	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0012759	HP:0001328	Specific learning disability	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0012759	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0012759	HP:0001328	Specific learning disability	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0012759	HP:0001249	Intellectual disability	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0012759	HP:0001328	Specific learning disability	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0012759	HP:0001249	Intellectual disability	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		28
HP:0012759	HP:0001249	Intellectual disability	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0012759	HP:0001249	Intellectual disability	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0012759	HP:0001249	Intellectual disability	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0012759	HP:0001328	Specific learning disability	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0012759	HP:0001249	Intellectual disability	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0012759	HP:0002376	Developmental regression	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0012759	HP:0001249	Intellectual disability	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0012759	HP:0001249	Intellectual disability	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0012759	HP:0001249	Intellectual disability	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0012759	HP:0001249	Intellectual disability	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0012759	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0012759	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0012759	HP:0001328	Specific learning disability	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0012759	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001328	Specific learning disability	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TDP2 CL E G H	51567	17768	ORPHA:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	HP:0040281 - Very frequent		3
HP:0012759	HP:0001249	Intellectual disability	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23			3
HP:0012759	HP:0001249	Intellectual disability	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0012759	HP:0001249	Intellectual disability	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.		17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0012759	HP:0001249	Intellectual disability	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0012759	HP:0001328	Specific learning disability	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0012759	HP:0001328	Specific learning disability	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0012759	HP:0001249	Intellectual disability	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0012759	HP:0001249	Intellectual disability	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0001249	Intellectual disability	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0012759	HP:0001249	Intellectual disability	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0012759	HP:0001249	Intellectual disability	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0002376	Developmental regression	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012759	HP:0001249	Intellectual disability	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0012759	HP:0001249	Intellectual disability	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.		155
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0012759	HP:0001249	Intellectual disability	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0012759	HP:0001249	Intellectual disability	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0012759	HP:0002376	Developmental regression	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001328	Specific learning disability	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0001249	Intellectual disability	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0012759	HP:0001249	Intellectual disability	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0012759	HP:0001249	Intellectual disability	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0012759	HP:0001249	Intellectual disability	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0012759	HP:0001249	Intellectual disability	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0012759	HP:0001249	Intellectual disability	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0012759	HP:0001328	Specific learning disability	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0012759	HP:0001249	Intellectual disability	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0012759	HP:0012758	Neurodevelopmental delay	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0012759	HP:0001249	Intellectual disability	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012759	HP:0001249	Intellectual disability	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012759	HP:0001249	Intellectual disability	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0001249	Intellectual disability	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0012759	HP:0001328	Specific learning disability	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0012759	HP:0001249	Intellectual disability	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0012759	HP:0001249	Intellectual disability	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012759	HP:0002376	Developmental regression	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012759	HP:0001249	Intellectual disability	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0012759	HP:0001249	Intellectual disability	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012759	HP:0001249	Intellectual disability	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0012759	HP:0001249	Intellectual disability	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	HP:0040284 - Very rare		3
HP:0012759	HP:0002376	Developmental regression	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0012759	HP:0001249	Intellectual disability	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0012759	HP:0001328	Specific learning disability	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0012759	HP:0001249	Intellectual disability	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	HP:0040284 - Very rare
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0001328	Specific learning disability	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0012759	HP:0001249	Intellectual disability	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0012759	HP:0001249	Intellectual disability	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012759	HP:0001249	Intellectual disability	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0012759	HP:0001249	Intellectual disability	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0012759	HP:0001249	Intellectual disability	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0012759	HP:0001249	Intellectual disability	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0012759	HP:0001249	Intellectual disability	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0012759	HP:0001249	Intellectual disability	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0012759	HP:0001249	Intellectual disability	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0012759	HP:0001249	Intellectual disability	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0012759	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0012759	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0012759	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0012759	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0012759	HP:0001249	Intellectual disability	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012759	HP:0001249	Intellectual disability	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0012759	HP:0001249	Intellectual disability	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012759	HP:0001328	Specific learning disability	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0001249	Intellectual disability	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0012759	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012759	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0012759	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0012759	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0012759	HP:0001249	Intellectual disability	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0012759	HP:0001328	Specific learning disability	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0012759	HP:0001249	Intellectual disability	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.		10
HP:0012759	HP:0002376	Developmental regression	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0012759	HP:0001249	Intellectual disability	1	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0001249	Intellectual disability	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0001249	Intellectual disability	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0012759	HP:0001249	Intellectual disability	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0012759	HP:0002376	Developmental regression	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0012759	HP:0001249	Intellectual disability	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0012759	HP:0001249	Intellectual disability	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012759	HP:0001249	Intellectual disability	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0001249	Intellectual disability	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0012759	HP:0001249	Intellectual disability	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0012759	HP:0001249	Intellectual disability	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0012759	HP:0001249	Intellectual disability	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0012759	HP:0001249	Intellectual disability	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0012759	HP:0001249	Intellectual disability	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012759	HP:0001249	Intellectual disability	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0012759	HP:0001249	Intellectual disability	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0012759	HP:0001249	Intellectual disability	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5			911
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0012759	HP:0001249	Intellectual disability	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0012759	HP:0001249	Intellectual disability	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0012759	HP:0001328	Specific learning disability	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0012759	HP:0002376	Developmental regression	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0012759	HP:0001249	Intellectual disability	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0012759	HP:0002376	Developmental regression	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0001249	Intellectual disability	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0012759	HP:0001249	Intellectual disability	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0012759	HP:0002376	Developmental regression	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0012759	HP:0001249	Intellectual disability	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0012759	HP:0002376	Developmental regression	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0012759	HP:0002376	Developmental regression	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0012759	HP:0002376	Developmental regression	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0012759	HP:0002376	Developmental regression	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0002376	Developmental regression	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0012759	HP:0001249	Intellectual disability	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0001328	Specific learning disability	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0012759	HP:0001249	Intellectual disability	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0012759	HP:0002376	Developmental regression	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0012759	HP:0001328	Specific learning disability	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0012759	HP:0001249	Intellectual disability	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012759	HP:0002376	Developmental regression	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012759	HP:0001249	Intellectual disability	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0001249	Intellectual disability	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012759	HP:0001249	Intellectual disability	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0012759	HP:0001249	Intellectual disability	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0012759	HP:0001249	Intellectual disability	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		1
HP:0012759	HP:0002376	Developmental regression	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0012759	HP:0001249	Intellectual disability	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0001249	Intellectual disability	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0001249	Intellectual disability	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0012759	HP:0001249	Intellectual disability	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0012759	HP:0001328	Specific learning disability	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0012759	HP:0001249	Intellectual disability	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0012759	HP:0001249	Intellectual disability	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0012759	HP:0001249	Intellectual disability	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0012759	HP:0001249	Intellectual disability	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012759	HP:0001249	Intellectual disability	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012759	HP:0001249	Intellectual disability	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012759	HP:0001328	Specific learning disability	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012759	HP:0001328	Specific learning disability	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012759	HP:0001328	Specific learning disability	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001249	Intellectual disability	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0001249	Intellectual disability	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0001249	Intellectual disability	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0002376	Developmental regression	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0001249	Intellectual disability	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0001328	Specific learning disability	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012759	HP:0001328	Specific learning disability	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012759	HP:0001249	Intellectual disability	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0002376	Developmental regression	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012759	HP:0001249	Intellectual disability	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012759	HP:0001328	Specific learning disability	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012759	HP:0002376	Developmental regression	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001328	Specific learning disability	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012759	HP:0002376	Developmental regression	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001249	Intellectual disability	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		171
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0012759	HP:0001249	Intellectual disability	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.		1090
HP:0012759	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0012759	HP:0001328	Specific learning disability	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0012759	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0012759	HP:0001328	Specific learning disability	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0012759	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.		2738
HP:0012759	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0012759	HP:0001328	Specific learning disability	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0012759	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0012759	HP:0001328	Specific learning disability	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0012759	HP:0001249	Intellectual disability	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.		3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0012759	HP:0001249	Intellectual disability	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0012759	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0012759	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0012759	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0012759	HP:0001249	Intellectual disability	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0001249	Intellectual disability	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0012759	HP:0001249	Intellectual disability	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012759	HP:0001249	Intellectual disability	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0012759	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0012759	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0012759	HP:0001249	Intellectual disability	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0001249	Intellectual disability	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0012759	HP:0001249	Intellectual disability	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0012759	HP:0002376	Developmental regression	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0012759	HP:0001249	Intellectual disability	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0012759	HP:0001249	Intellectual disability	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0012759	HP:0001249	Intellectual disability	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0012759	HP:0001249	Intellectual disability	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5			23
HP:0012759	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0012759	HP:0001328	Specific learning disability	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7			39
HP:0012759	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		39
HP:0012759	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040282 - Frequent		39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0012759	HP:0001249	Intellectual disability	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0012759	HP:0001249	Intellectual disability	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0012759	HP:0001328	Specific learning disability	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0012759	HP:0001249	Intellectual disability	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012759	HP:0001328	Specific learning disability	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0012759	HP:0001249	Intellectual disability	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0012759	HP:0001249	Intellectual disability	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001328	Specific learning disability	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4			14
HP:0012759	HP:0001249	Intellectual disability	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0012759	HP:0001249	Intellectual disability	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0012759	HP:0001249	Intellectual disability	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0012759	HP:0002376	Developmental regression	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012759	HP:0001249	Intellectual disability	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		66
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0012759	HP:0001249	Intellectual disability	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0012759	HP:0001249	Intellectual disability	1	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7	.		76
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0012759	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		18
HP:0012759	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0012759	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0012759	HP:0001328	Specific learning disability	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012759	HP:0001249	Intellectual disability	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0012759	HP:0001249	Intellectual disability	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012759	HP:0001249	Intellectual disability	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		138
HP:0012759	HP:0012758	Neurodevelopmental delay	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0012759	HP:0002376	Developmental regression	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0012759	HP:0001249	Intellectual disability	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0012759	HP:0001249	Intellectual disability	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0002376	Developmental regression	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0012759	HP:0002376	Developmental regression	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0012759	HP:0001249	Intellectual disability	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0012759	HP:0001249	Intellectual disability	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0012759	HP:0001249	Intellectual disability	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0012759	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent		278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0012759	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0012759	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		278
HP:0012759	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0012759	HP:0001249	Intellectual disability	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0001249	Intellectual disability	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0012759	HP:0001328	Specific learning disability	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0012759	HP:0001249	Intellectual disability	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0012759	HP:0001249	Intellectual disability	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0012759	HP:0001249	Intellectual disability	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0012759	HP:0001249	Intellectual disability	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0012759	HP:0001249	Intellectual disability	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0012759	HP:0002376	Developmental regression	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0012759	HP:0001249	Intellectual disability	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0012759	HP:0002376	Developmental regression	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0012759	HP:0001249	Intellectual disability	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0012759	HP:0001249	Intellectual disability	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0012759	HP:0001249	Intellectual disability	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0012759	HP:0001249	Intellectual disability	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0001249	Intellectual disability	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0002376	Developmental regression	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0001249	Intellectual disability	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012759	HP:0001249	Intellectual disability	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0001249	Intellectual disability	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0012759	HP:0001249	Intellectual disability	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012759	HP:0001249	Intellectual disability	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001249	Intellectual disability	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012759	HP:0001249	Intellectual disability	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012759	HP:0001249	Intellectual disability	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0012759	HP:0001249	Intellectual disability	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0012759	HP:0001249	Intellectual disability	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0012759	HP:0001249	Intellectual disability	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0012759	HP:0001249	Intellectual disability	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0012759	HP:0001249	Intellectual disability	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0012759	HP:0001249	Intellectual disability	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0012759	HP:0001249	Intellectual disability	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040283 - Occasional		7
HP:0012759	HP:0001249	Intellectual disability	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0012759	HP:0001249	Intellectual disability	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0012759	HP:0001249	Intellectual disability	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0012759	HP:0002376	Developmental regression	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0012759	HP:0001249	Intellectual disability	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0012759	HP:0001249	Intellectual disability	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0012759	HP:0001249	Intellectual disability	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11			5
HP:0012759	HP:0001328	Specific learning disability	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0012759	HP:0001328	Specific learning disability	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0012759	HP:0001249	Intellectual disability	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0012759	HP:0001328	Specific learning disability	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0012759	HP:0001249	Intellectual disability	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0012759	HP:0001249	Intellectual disability	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		111
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0012759	HP:0001249	Intellectual disability	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0012759	HP:0007281	Developmental stagnation	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0001249	Intellectual disability	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012759	HP:0001249	Intellectual disability	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0012759	HP:0001249	Intellectual disability	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0012759	HP:0001328	Specific learning disability	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012759	HP:0001249	Intellectual disability	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0012759	HP:0001249	Intellectual disability	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012759	HP:0001249	Intellectual disability	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0012759	HP:0001249	Intellectual disability	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002376	Developmental regression	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001328	Specific learning disability	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012759	HP:0001249	Intellectual disability	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0012759	HP:0001249	Intellectual disability	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0001249	Intellectual disability	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012759	HP:0001249	Intellectual disability	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0012759	HP:0012758	Neurodevelopmental delay	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012759	HP:0001249	Intellectual disability	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0012759	HP:0001249	Intellectual disability	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0012759	HP:0001249	Intellectual disability	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040281 - Very frequent		20
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0012759	HP:0001249	Intellectual disability	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012759	HP:0001249	Intellectual disability	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0002376	Developmental regression	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0001249	Intellectual disability	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040281 - Very frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012759	HP:0001328	Specific learning disability	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		65
HP:0012759	HP:0001249	Intellectual disability	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0002376	Developmental regression	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0001249	Intellectual disability	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43	.		25
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0001249	Intellectual disability	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012759	HP:0001249	Intellectual disability	1	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant			6
HP:0012759	HP:0001249	Intellectual disability	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0012759	HP:0001328	Specific learning disability	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012759	HP:0001249	Intellectual disability	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0012759	HP:0001249	Intellectual disability	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012759	HP:0001249	Intellectual disability	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0012759	HP:0001249	Intellectual disability	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0012759	HP:0001249	Intellectual disability	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0012759	HP:0001249	Intellectual disability	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0012759	HP:0002376	Developmental regression	1	WDR45 CL E G H	11152	28912	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		51
HP:0012759	HP:0001249	Intellectual disability	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0012759	HP:0001249	Intellectual disability	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0012759	HP:0001249	Intellectual disability	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0012759	HP:0001249	Intellectual disability	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0012759	HP:0001249	Intellectual disability	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0001249	Intellectual disability	1	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0012759	HP:0001249	Intellectual disability	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0012759	HP:0001249	Intellectual disability	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		27
HP:0012759	HP:0001249	Intellectual disability	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0012759	HP:0002376	Developmental regression	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0012759	HP:0001249	Intellectual disability	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0012759	HP:0001328	Specific learning disability	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001249	Intellectual disability	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0012759	HP:0001249	Intellectual disability	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0002376	Developmental regression	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0012759	HP:0001249	Intellectual disability	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0012759	HP:0001328	Specific learning disability	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0012759	HP:0001249	Intellectual disability	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0012759	HP:0001249	Intellectual disability	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0012759	HP:0001249	Intellectual disability	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent		177
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0012759	HP:0001249	Intellectual disability	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0012759	HP:0002376	Developmental regression	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0012759	HP:0001249	Intellectual disability	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0012759	HP:0012758	Neurodevelopmental delay	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0012759	HP:0001249	Intellectual disability	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0012759	HP:0002376	Developmental regression	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0012759	HP:0001249	Intellectual disability	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0012759	HP:0001249	Intellectual disability	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0012759	HP:0002376	Developmental regression	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0012759	HP:0001249	Intellectual disability	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0012759	HP:0001249	Intellectual disability	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0012759	HP:0012758	Neurodevelopmental delay	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0012759	HP:0001249	Intellectual disability	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0012759	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0012759	HP:0001249	Intellectual disability	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001249	Intellectual disability	1	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	HP:0040283 - Occasional		2
HP:0012759	HP:0001249	Intellectual disability	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0001249	Intellectual disability	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0012759	HP:0001249	Intellectual disability	1	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012759	HP:0001249	Intellectual disability	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome			14
HP:0012759	HP:0001249	Intellectual disability	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0012759	HP:0001249	Intellectual disability	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0002376	Developmental regression	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0012759	HP:0001249	Intellectual disability	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0012759	HP:0001249	Intellectual disability	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012759	HP:0012758	Neurodevelopmental delay	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012759	HP:0001249	Intellectual disability	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.		5
HP:0012759	HP:0001249	Intellectual disability	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0012759	HP:0001328	Specific learning disability	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0012759	HP:0002376	Developmental regression	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0002376	Developmental regression	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0012759	HP:0001249	Intellectual disability	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0001249	Intellectual disability	1	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56	.		24
HP:0012759	HP:0001249	Intellectual disability	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0012759	HP:0001249	Intellectual disability	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0001249	Intellectual disability	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001249	Intellectual disability	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	HP:0040280 - Obligate		10
HP:0012759	HP:0001249	Intellectual disability	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0001249	Intellectual disability	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0012759	HP:0001249	Intellectual disability	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0012759	HP:0001249	Intellectual disability	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0012759	HP:0001249	Intellectual disability	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0012759	HP:0001328	Specific learning disability	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0012759	HP:0001249	Intellectual disability	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0012759	HP:0001249	Intellectual disability	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		5
HP:0012759	HP:0001249	Intellectual disability	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001328	Specific learning disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001328	Specific learning disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001328	Specific learning disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001328	Specific learning disability	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0012759	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001328	Specific learning disability	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0012759	HP:0001249	Intellectual disability	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0001249	Intellectual disability	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0012759	HP:0001249	Intellectual disability	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0012759	HP:0001249	Intellectual disability	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012759	HP:0001249	Intellectual disability	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012759	HP:0001249	Intellectual disability	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0001249	Intellectual disability	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012759	HP:0001249	Intellectual disability	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0012759	HP:0001249	Intellectual disability	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		49
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0012759	HP:0001249	Intellectual disability	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0001249	Intellectual disability	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012759	HP:0001249	Intellectual disability	1	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome			4
HP:0012759	HP:0001249	Intellectual disability	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012759	HP:0002376	Developmental regression	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012759	HP:0001249	Intellectual disability	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012759	HP:0001249	Intellectual disability	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012759	HP:0001249	Intellectual disability	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0007281	Developmental stagnation	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0012759	HP:0001249	Intellectual disability	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0012759	HP:0001249	Intellectual disability	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0012759	HP:0001249	Intellectual disability	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0012759	HP:0012758	Neurodevelopmental delay	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0012759	HP:0001263	Global developmental delay	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0012759	HP:0001263	Global developmental delay	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0012759	HP:0000750	Delayed speech and language development	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012759	HP:0001270	Motor delay	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012759	HP:0000750	Delayed speech and language development	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0012759	HP:0001263	Global developmental delay	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0012759	HP:0006889	Intellectual disability, borderline	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0012759	HP:0000750	Delayed speech and language development	2	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0012759	HP:0001256	Intellectual disability, mild	2	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0012759	HP:0001256	Intellectual disability, mild	2	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0012759	HP:0001263	Global developmental delay	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0012759	HP:0001256	Intellectual disability, mild	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0001263	Global developmental delay	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0001270	Motor delay	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0001263	Global developmental delay	2	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040282 - Frequent		35
HP:0012759	HP:0001263	Global developmental delay	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012759	HP:0001263	Global developmental delay	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012759	HP:0001270	Motor delay	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012759	HP:0012434	Delayed social development	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012759	HP:0001263	Global developmental delay	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012759	HP:0001270	Motor delay	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012759	HP:0010864	Intellectual disability, severe	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0012759	HP:0001256	Intellectual disability, mild	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0012759	HP:0001256	Intellectual disability, mild	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0012759	HP:0001263	Global developmental delay	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0012759	HP:0000750	Delayed speech and language development	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0001263	Global developmental delay	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0001263	Global developmental delay	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0012759	HP:0001263	Global developmental delay	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare		51
HP:0012759	HP:0000750	Delayed speech and language development	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0012759	HP:0001263	Global developmental delay	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012759	HP:0001263	Global developmental delay	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0012759	HP:0000750	Delayed speech and language development	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0012759	HP:0000750	Delayed speech and language development	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0012759	HP:0001263	Global developmental delay	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0012759	HP:0000750	Delayed speech and language development	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0012759	HP:0001263	Global developmental delay	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0012759	HP:0001270	Motor delay	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0012759	HP:0001256	Intellectual disability, mild	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040284 - Very rare		91
HP:0012759	HP:0001270	Motor delay	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040284 - Very rare		91
HP:0012759	HP:0001263	Global developmental delay	2	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency	.
HP:0012759	HP:0000750	Delayed speech and language development	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012759	HP:0001270	Motor delay	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012759	HP:0001263	Global developmental delay	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.		11
HP:0012759	HP:0001263	Global developmental delay	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0000750	Delayed speech and language development	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0012759	HP:0001263	Global developmental delay	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0012759	HP:0001263	Global developmental delay	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012759	HP:0000750	Delayed speech and language development	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0012759	HP:0001263	Global developmental delay	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0012759	HP:0001263	Global developmental delay	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0012759	HP:0001270	Motor delay	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0012759	HP:0001256	Intellectual disability, mild	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012759	HP:0001263	Global developmental delay	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012759	HP:0000750	Delayed speech and language development	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012759	HP:0001263	Global developmental delay	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012759	HP:0001263	Global developmental delay	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.		68
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0000750	Delayed speech and language development	2	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0012759	HP:0001270	Motor delay	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0012759	HP:0001270	Motor delay	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0012759	HP:0001270	Motor delay	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0012759	HP:0001270	Motor delay	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0012759	HP:0001263	Global developmental delay	2	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional		96
HP:0012759	HP:0001270	Motor delay	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0012759	HP:0001263	Global developmental delay	2	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0012759	HP:0001263	Global developmental delay	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0001263	Global developmental delay	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0012759	HP:0001263	Global developmental delay	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0012759	HP:0001256	Intellectual disability, mild	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0012759	HP:0001263	Global developmental delay	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0012759	HP:0001270	Motor delay	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0012759	HP:0001263	Global developmental delay	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0012759	HP:0000750	Delayed speech and language development	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0001263	Global developmental delay	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0000750	Delayed speech and language development	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0001263	Global developmental delay	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0000750	Delayed speech and language development	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001270	Motor delay	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0012759	HP:0001256	Intellectual disability, mild	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	HP:0040284 - Very rare		49
HP:0012759	HP:0001263	Global developmental delay	2	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.		13
HP:0012759	HP:0001263	Global developmental delay	2	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional		13
HP:0012759	HP:0001270	Motor delay	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012759	HP:0001270	Motor delay	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0012759	HP:0002187	Intellectual disability, profound	2	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0012759	HP:0001256	Intellectual disability, mild	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0012759	HP:0001270	Motor delay	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0012759	HP:0001263	Global developmental delay	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0012759	HP:0001263	Global developmental delay	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		116
HP:0012759	HP:0002187	Intellectual disability, profound	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		116
HP:0012759	HP:0001263	Global developmental delay	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	.		116
HP:0012759	HP:0000750	Delayed speech and language development	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0012759	HP:0001256	Intellectual disability, mild	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0012759	HP:0000750	Delayed speech and language development	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0001263	Global developmental delay	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0001270	Motor delay	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0000750	Delayed speech and language development	2	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0012759	HP:0001270	Motor delay	2	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0012759	HP:0001270	Motor delay	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional		25
HP:0012759	HP:0001270	Motor delay	2	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0012759	HP:0000750	Delayed speech and language development	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0001263	Global developmental delay	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0001270	Motor delay	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0010864	Intellectual disability, severe	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0000750	Delayed speech and language development	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0012759	HP:0001263	Global developmental delay	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0012759	HP:0001263	Global developmental delay	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0001270	Motor delay	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		88
HP:0012759	HP:0010864	Intellectual disability, severe	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0000750	Delayed speech and language development	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0001263	Global developmental delay	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0012759	HP:0001263	Global developmental delay	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012759	HP:0000750	Delayed speech and language development	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0001263	Global developmental delay	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0001270	Motor delay	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0033044	Motor regression	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012759	HP:0000750	Delayed speech and language development	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0012759	HP:0001263	Global developmental delay	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0012759	HP:0000750	Delayed speech and language development	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0012759	HP:0001263	Global developmental delay	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0012759	HP:0000750	Delayed speech and language development	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012759	HP:0001263	Global developmental delay	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012759	HP:0000750	Delayed speech and language development	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0012759	HP:0001263	Global developmental delay	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0012759	HP:0001263	Global developmental delay	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0012759	HP:0000750	Delayed speech and language development	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0012759	HP:0001263	Global developmental delay	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0012759	HP:0001263	Global developmental delay	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0012759	HP:0001263	Global developmental delay	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0001256	Intellectual disability, mild	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0012759	HP:0000750	Delayed speech and language development	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0012759	HP:0000750	Delayed speech and language development	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0012759	HP:0001270	Motor delay	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0012759	HP:0001256	Intellectual disability, mild	2	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent		216
HP:0012759	HP:0000750	Delayed speech and language development	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0001270	Motor delay	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0001263	Global developmental delay	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0012759	HP:0001270	Motor delay	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0012759	HP:0001270	Motor delay	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0012759	HP:0000750	Delayed speech and language development	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0012759	HP:0001263	Global developmental delay	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0012759	HP:0001270	Motor delay	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0012759	HP:0001263	Global developmental delay	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012759	HP:0001270	Motor delay	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012759	HP:0001263	Global developmental delay	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0012759	HP:0001270	Motor delay	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0012759	HP:0001263	Global developmental delay	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0012759	HP:0000750	Delayed speech and language development	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001263	Global developmental delay	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001270	Motor delay	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0000750	Delayed speech and language development	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0001263	Global developmental delay	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0012759	HP:0001270	Motor delay	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0001263	Global developmental delay	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0012759	HP:0001270	Motor delay	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0012759	HP:0001263	Global developmental delay	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0012759	HP:0006887	Intellectual disability, progressive	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.		5
HP:0012759	HP:0010864	Intellectual disability, severe	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.		5
HP:0012759	HP:0001263	Global developmental delay	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0012759	HP:0000750	Delayed speech and language development	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012759	HP:0006887	Intellectual disability, progressive	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0012759	HP:0001263	Global developmental delay	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0001263	Global developmental delay	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0002187	Intellectual disability, profound	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0012759	HP:0001263	Global developmental delay	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		114
HP:0012759	HP:0001270	Motor delay	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0012759	HP:0001263	Global developmental delay	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0012759	HP:0001256	Intellectual disability, mild	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0012759	HP:0002342	Intellectual disability, moderate	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0012759	HP:0001263	Global developmental delay	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0012759	HP:0010864	Intellectual disability, severe	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0012759	HP:0001256	Intellectual disability, mild	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0012759	HP:0001263	Global developmental delay	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012759	HP:0001263	Global developmental delay	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent		89
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0012759	HP:0001270	Motor delay	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0012759	HP:0001270	Motor delay	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0012759	HP:0001263	Global developmental delay	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent		74
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0001263	Global developmental delay	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0012759	HP:0001263	Global developmental delay	2	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040281 - Very frequent		108
HP:0012759	HP:0001270	Motor delay	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012759	HP:0001263	Global developmental delay	2	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0012759	HP:0001263	Global developmental delay	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0012759	HP:0000750	Delayed speech and language development	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0012759	HP:0001270	Motor delay	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional		50
HP:0012759	HP:0001256	Intellectual disability, mild	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0012759	HP:0001263	Global developmental delay	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040281 - Very frequent		58
HP:0012759	HP:0001263	Global developmental delay	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0012759	HP:0001263	Global developmental delay	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent		41
HP:0012759	HP:0000750	Delayed speech and language development	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0012759	HP:0001263	Global developmental delay	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0012759	HP:0000750	Delayed speech and language development	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0012759	HP:0001263	Global developmental delay	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012759	HP:0001270	Motor delay	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012759	HP:0001263	Global developmental delay	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0012759	HP:0000750	Delayed speech and language development	2	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0012759	HP:0001263	Global developmental delay	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0012759	HP:0010864	Intellectual disability, severe	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0012759	HP:0001270	Motor delay	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		12
HP:0012759	HP:0000750	Delayed speech and language development	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0001263	Global developmental delay	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0010864	Intellectual disability, severe	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0001263	Global developmental delay	2	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0012759	HP:0000750	Delayed speech and language development	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0001263	Global developmental delay	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0012759	HP:0001270	Motor delay	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0010864	Intellectual disability, severe	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0001270	Motor delay	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		46
HP:0012759	HP:0001270	Motor delay	2	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional		46
HP:0012759	HP:0001263	Global developmental delay	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040281 - Very frequent		37
HP:0012759	HP:0001263	Global developmental delay	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0012759	HP:0001263	Global developmental delay	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.		66
HP:0012759	HP:0001263	Global developmental delay	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012759	HP:0001263	Global developmental delay	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040281 - Very frequent		93
HP:0012759	HP:0001263	Global developmental delay	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012759	HP:0001263	Global developmental delay	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0012759	HP:0000750	Delayed speech and language development	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012759	HP:0001270	Motor delay	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012759	HP:0001263	Global developmental delay	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0012759	HP:0006889	Intellectual disability, borderline	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0012759	HP:0006889	Intellectual disability, borderline	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0012759	HP:0001263	Global developmental delay	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012759	HP:0001263	Global developmental delay	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0012759	HP:0001270	Motor delay	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012759	HP:0001270	Motor delay	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0012759	HP:0001263	Global developmental delay	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0012759	HP:0001256	Intellectual disability, mild	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0012759	HP:0001263	Global developmental delay	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		132
HP:0012759	HP:0000750	Delayed speech and language development	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0012759	HP:0001256	Intellectual disability, mild	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040282 - Frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0012759	HP:0000750	Delayed speech and language development	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0012759	HP:0001270	Motor delay	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0012759	HP:0001270	Motor delay	2	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0012759	HP:0001263	Global developmental delay	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0012759	HP:0001270	Motor delay	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0012759	HP:0001263	Global developmental delay	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0012759	HP:0001263	Global developmental delay	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0012759	HP:0001270	Motor delay	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0012759	HP:0001263	Global developmental delay	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0000750	Delayed speech and language development	2	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent		176
HP:0012759	HP:0001256	Intellectual disability, mild	2	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional		176
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent		176
HP:0012759	HP:0000750	Delayed speech and language development	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0012759	HP:0001263	Global developmental delay	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0012759	HP:0001263	Global developmental delay	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0012759	HP:0001263	Global developmental delay	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0012759	HP:0001263	Global developmental delay	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0012759	HP:0000750	Delayed speech and language development	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0012759	HP:0001263	Global developmental delay	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0012759	HP:0001270	Motor delay	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0012759	HP:0001256	Intellectual disability, mild	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		64
HP:0012759	HP:0001270	Motor delay	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	HP:0040284 - Very rare		8
HP:0012759	HP:0001263	Global developmental delay	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0012759	HP:0000750	Delayed speech and language development	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012759	HP:0001263	Global developmental delay	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012759	HP:0000750	Delayed speech and language development	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0012759	HP:0001263	Global developmental delay	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0012759	HP:0001263	Global developmental delay	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0012759	HP:0001263	Global developmental delay	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0002342	Intellectual disability, moderate	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0012759	HP:0001263	Global developmental delay	2	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0002187	Intellectual disability, profound	2	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0012759	HP:0001256	Intellectual disability, mild	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0001263	Global developmental delay	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0001270	Motor delay	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0000750	Delayed speech and language development	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0001263	Global developmental delay	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0001270	Motor delay	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0000750	Delayed speech and language development	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012759	HP:0001263	Global developmental delay	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		49
HP:0012759	HP:0000750	Delayed speech and language development	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0012759	HP:0001263	Global developmental delay	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0012759	HP:0001263	Global developmental delay	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		48
HP:0012759	HP:0001263	Global developmental delay	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0012759	HP:0001263	Global developmental delay	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		41
HP:0012759	HP:0001263	Global developmental delay	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0012759	HP:0006887	Intellectual disability, progressive	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0012759	HP:0001263	Global developmental delay	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		18
HP:0012759	HP:0001263	Global developmental delay	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0012759	HP:0010864	Intellectual disability, severe	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0012759	HP:0001263	Global developmental delay	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0012759	HP:0001256	Intellectual disability, mild	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0012759	HP:0010522	Dyslexia	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0012759	HP:0002342	Intellectual disability, moderate	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0012759	HP:0000750	Delayed speech and language development	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0001263	Global developmental delay	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0001270	Motor delay	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0012434	Delayed social development	2	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0002442	Dyscalculia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0000750	Delayed speech and language development	2	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0012759	HP:0001263	Global developmental delay	2	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0012759	HP:0001263	Global developmental delay	2	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		75
HP:0012759	HP:0001263	Global developmental delay	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0012759	HP:0001270	Motor delay	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0012759	HP:0001263	Global developmental delay	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012759	HP:0000750	Delayed speech and language development	2	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012759	HP:0001263	Global developmental delay	2	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012759	HP:0001263	Global developmental delay	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0012759	HP:0001263	Global developmental delay	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.		31
HP:0012759	HP:0001263	Global developmental delay	2	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040281 - Very frequent		31
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040281 - Very frequent		31
HP:0012759	HP:0000750	Delayed speech and language development	2	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0012759	HP:0000750	Delayed speech and language development	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0012759	HP:0001270	Motor delay	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.		45
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.		45
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0012759	HP:0001263	Global developmental delay	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0012759	HP:0001256	Intellectual disability, mild	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0012759	HP:0001263	Global developmental delay	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0001263	Global developmental delay	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0001270	Motor delay	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0012759	HP:0000750	Delayed speech and language development	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0012759	HP:0001263	Global developmental delay	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0012759	HP:0001270	Motor delay	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0012759	HP:0001263	Global developmental delay	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0012759	HP:0000750	Delayed speech and language development	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0001263	Global developmental delay	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0001270	Motor delay	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0001263	Global developmental delay	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0012759	HP:0000750	Delayed speech and language development	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0012759	HP:0001263	Global developmental delay	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012759	HP:0001263	Global developmental delay	2	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0012759	HP:0001263	Global developmental delay	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0012759	HP:0001263	Global developmental delay	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0012759	HP:0001263	Global developmental delay	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0012759	HP:0000750	Delayed speech and language development	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0001256	Intellectual disability, mild	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0001270	Motor delay	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0012759	HP:0001263	Global developmental delay	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0012759	HP:0001263	Global developmental delay	2	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0012759	HP:0001263	Global developmental delay	2	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.		3
HP:0012759	HP:0002187	Intellectual disability, profound	2	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001256	Intellectual disability, mild	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0012759	HP:0010864	Intellectual disability, severe	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0012759	HP:0000750	Delayed speech and language development	2	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.		166
HP:0012759	HP:0000750	Delayed speech and language development	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional		166
HP:0012759	HP:0001256	Intellectual disability, mild	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent		166
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0012759	HP:0001270	Motor delay	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0012759	HP:0001263	Global developmental delay	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0012759	HP:0000750	Delayed speech and language development	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012759	HP:0001263	Global developmental delay	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0012759	HP:0001263	Global developmental delay	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0012759	HP:0001263	Global developmental delay	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0012759	HP:0001263	Global developmental delay	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012759	HP:0000750	Delayed speech and language development	2	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0012759	HP:0001263	Global developmental delay	2	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0012759	HP:0001270	Motor delay	2	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent		48
HP:0012759	HP:0000750	Delayed speech and language development	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0012759	HP:0001263	Global developmental delay	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0012759	HP:0001270	Motor delay	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0012759	HP:0001263	Global developmental delay	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0012759	HP:0010864	Intellectual disability, severe	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0012759	HP:0000750	Delayed speech and language development	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0012759	HP:0001270	Motor delay	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0012759	HP:0001263	Global developmental delay	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0012759	HP:0000750	Delayed speech and language development	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012759	HP:0001263	Global developmental delay	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0012759	HP:0002187	Intellectual disability, profound	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0012759	HP:0002187	Intellectual disability, profound	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0012759	HP:0010864	Intellectual disability, severe	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0012759	HP:0000750	Delayed speech and language development	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0012759	HP:0001263	Global developmental delay	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0012759	HP:0001263	Global developmental delay	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent		49
HP:0012759	HP:0002187	Intellectual disability, profound	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0012759	HP:0010864	Intellectual disability, severe	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0012759	HP:0000750	Delayed speech and language development	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0001263	Global developmental delay	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0001270	Motor delay	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0001263	Global developmental delay	2	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0012759	HP:0000750	Delayed speech and language development	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0012759	HP:0001263	Global developmental delay	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0012759	HP:0001263	Global developmental delay	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012759	HP:0001263	Global developmental delay	2	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.		72
HP:0012759	HP:0001263	Global developmental delay	2	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent		72
HP:0012759	HP:0001263	Global developmental delay	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.		1
HP:0012759	HP:0001270	Motor delay	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0012759	HP:0000750	Delayed speech and language development	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0001270	Motor delay	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0012759	HP:0002187	Intellectual disability, profound	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0012759	HP:0001270	Motor delay	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040283 - Occasional		71
HP:0012759	HP:0001256	Intellectual disability, mild	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	HP:0040283 - Occasional		71
HP:0012759	HP:0001270	Motor delay	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0012759	HP:0000750	Delayed speech and language development	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0012759	HP:0000750	Delayed speech and language development	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012759	HP:0001263	Global developmental delay	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0012759	HP:0001270	Motor delay	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0012759	HP:0001263	Global developmental delay	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012759	HP:0001256	Intellectual disability, mild	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.		4
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent		4
HP:0012759	HP:0001270	Motor delay	2	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability			4
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0012759	HP:0001270	Motor delay	2	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent		150
HP:0012759	HP:0001270	Motor delay	2	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012759	HP:0001256	Intellectual disability, mild	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0012759	HP:0001263	Global developmental delay	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012759	HP:0001270	Motor delay	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0012759	HP:0001270	Motor delay	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent		19
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0012759	HP:0001263	Global developmental delay	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0012759	HP:0001263	Global developmental delay	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0001263	Global developmental delay	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0001270	Motor delay	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0012759	HP:0001270	Motor delay	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0001270	Motor delay	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0012759	HP:0001270	Motor delay	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0012759	HP:0002187	Intellectual disability, profound	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0012759	HP:0001270	Motor delay	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0012759	HP:0001270	Motor delay	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0012759	HP:0002187	Intellectual disability, profound	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0012759	HP:0001270	Motor delay	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0012759	HP:0001270	Motor delay	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0012759	HP:0000750	Delayed speech and language development	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0012759	HP:0001270	Motor delay	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0012759	HP:0002187	Intellectual disability, profound	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent		192
HP:0012759	HP:0001263	Global developmental delay	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0012759	HP:0001263	Global developmental delay	2	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0012759	HP:0001263	Global developmental delay	2	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0012759	HP:0001263	Global developmental delay	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0012759	HP:0010864	Intellectual disability, severe	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0012759	HP:0000750	Delayed speech and language development	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0012759	HP:0001270	Motor delay	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0012759	HP:0000750	Delayed speech and language development	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040282 - Frequent		49
HP:0012759	HP:0001263	Global developmental delay	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040282 - Frequent		49
HP:0012759	HP:0000750	Delayed speech and language development	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012759	HP:0001263	Global developmental delay	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012759	HP:0001270	Motor delay	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0012759	HP:0000750	Delayed speech and language development	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040281 - Very frequent		61
HP:0012759	HP:0001263	Global developmental delay	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0012759	HP:0000750	Delayed speech and language development	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0012759	HP:0001263	Global developmental delay	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0012759	HP:0001270	Motor delay	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0012759	HP:0001263	Global developmental delay	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		67
HP:0012759	HP:0001263	Global developmental delay	2	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0012759	HP:0001263	Global developmental delay	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0012759	HP:0000750	Delayed speech and language development	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0012759	HP:0001270	Motor delay	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0012759	HP:0001263	Global developmental delay	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	HP:0040283 - Occasional		38
HP:0012759	HP:0001270	Motor delay	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0012759	HP:0001263	Global developmental delay	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001263	Global developmental delay	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0012759	HP:0006887	Intellectual disability, progressive	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0012759	HP:0001256	Intellectual disability, mild	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0012759	HP:0001263	Global developmental delay	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.		85
HP:0012759	HP:0001263	Global developmental delay	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0012759	HP:0001263	Global developmental delay	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0012759	HP:0001270	Motor delay	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0012759	HP:0001263	Global developmental delay	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0012759	HP:0001263	Global developmental delay	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0001263	Global developmental delay	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0001263	Global developmental delay	2	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0012759	HP:0001263	Global developmental delay	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0000750	Delayed speech and language development	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0001263	Global developmental delay	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0001270	Motor delay	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0012759	HP:0000750	Delayed speech and language development	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0012759	HP:0001263	Global developmental delay	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012759	HP:0001263	Global developmental delay	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012759	HP:0000750	Delayed speech and language development	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012759	HP:0001263	Global developmental delay	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012759	HP:0001263	Global developmental delay	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0012759	HP:0000750	Delayed speech and language development	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0001263	Global developmental delay	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0001270	Motor delay	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0010864	Intellectual disability, severe	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0001263	Global developmental delay	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0012759	HP:0000750	Delayed speech and language development	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0012759	HP:0001263	Global developmental delay	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0012759	HP:0001263	Global developmental delay	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0012759	HP:0001270	Motor delay	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0012759	HP:0001270	Motor delay	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0012759	HP:0001256	Intellectual disability, mild	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0012759	HP:0001270	Motor delay	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0012759	HP:0001263	Global developmental delay	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0012759	HP:0000750	Delayed speech and language development	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0012759	HP:0001263	Global developmental delay	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0012759	HP:0001270	Motor delay	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0010864	Intellectual disability, severe	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0001263	Global developmental delay	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012759	HP:0001270	Motor delay	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0012759	HP:0001270	Motor delay	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0012759	HP:0001270	Motor delay	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0012759	HP:0001263	Global developmental delay	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0012759	HP:0001270	Motor delay	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012759	HP:0000750	Delayed speech and language development	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0012759	HP:0001256	Intellectual disability, mild	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0012759	HP:0001270	Motor delay	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0012759	HP:0001256	Intellectual disability, mild	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional		99
HP:0012759	HP:0001270	Motor delay	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0012759	HP:0001256	Intellectual disability, mild	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	HP:0040283 - Occasional		314
HP:0012759	HP:0000750	Delayed speech and language development	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0012759	HP:0001263	Global developmental delay	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0012759	HP:0001270	Motor delay	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0012759	HP:0001263	Global developmental delay	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0012759	HP:0001263	Global developmental delay	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent		38
HP:0012759	HP:0000750	Delayed speech and language development	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012759	HP:0001263	Global developmental delay	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012759	HP:0001263	Global developmental delay	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0012759	HP:0001256	Intellectual disability, mild	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0012759	HP:0001270	Motor delay	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0012759	HP:0000750	Delayed speech and language development	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0012759	HP:0001263	Global developmental delay	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0012759	HP:0000750	Delayed speech and language development	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0001263	Global developmental delay	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0001270	Motor delay	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0012759	HP:0001263	Global developmental delay	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0012759	HP:0001263	Global developmental delay	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0012759	HP:0001256	Intellectual disability, mild	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0012759	HP:0001263	Global developmental delay	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0012759	HP:0000750	Delayed speech and language development	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0012759	HP:0001263	Global developmental delay	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0012759	HP:0001270	Motor delay	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0012759	HP:0001263	Global developmental delay	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0012759	HP:0001263	Global developmental delay	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0012759	HP:0000750	Delayed speech and language development	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0012759	HP:0001263	Global developmental delay	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0012759	HP:0001263	Global developmental delay	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0012759	HP:0001263	Global developmental delay	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0000750	Delayed speech and language development	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0012759	HP:0001263	Global developmental delay	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0012759	HP:0001263	Global developmental delay	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0012759	HP:0001263	Global developmental delay	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0012759	HP:0000750	Delayed speech and language development	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0012759	HP:0001263	Global developmental delay	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0012759	HP:0001270	Motor delay	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0012759	HP:0000750	Delayed speech and language development	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0012759	HP:0001256	Intellectual disability, mild	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0012759	HP:0001263	Global developmental delay	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0012759	HP:0000750	Delayed speech and language development	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0012759	HP:0001256	Intellectual disability, mild	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0012759	HP:0000750	Delayed speech and language development	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0012759	HP:0001270	Motor delay	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012759	HP:0001270	Motor delay	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0012759	HP:0001263	Global developmental delay	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012759	HP:0001263	Global developmental delay	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0012759	HP:0000750	Delayed speech and language development	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0012759	HP:0001263	Global developmental delay	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		76
HP:0012759	HP:0001263	Global developmental delay	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0012759	HP:0002187	Intellectual disability, profound	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0012759	HP:0001263	Global developmental delay	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0012759	HP:0001263	Global developmental delay	2	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0012759	HP:0001256	Intellectual disability, mild	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0012759	HP:0001263	Global developmental delay	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0012759	HP:0001263	Global developmental delay	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012759	HP:0000750	Delayed speech and language development	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0012759	HP:0001263	Global developmental delay	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	HP:0040283 - Occasional		114
HP:0012759	HP:0001263	Global developmental delay	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0012759	HP:0000750	Delayed speech and language development	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0012759	HP:0001263	Global developmental delay	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0012759	HP:0001263	Global developmental delay	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012759	HP:0002442	Dyscalculia	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0012759	HP:0002442	Dyscalculia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0012759	HP:0010522	Dyslexia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0012759	HP:0002442	Dyscalculia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0012759	HP:0010522	Dyslexia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0012759	HP:0001263	Global developmental delay	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0012759	HP:0010864	Intellectual disability, severe	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012759	HP:0001263	Global developmental delay	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	HP:0040283 - Occasional		10
HP:0012759	HP:0001256	Intellectual disability, mild	2	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.		8
HP:0012759	HP:0001256	Intellectual disability, mild	2	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		94
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0012759	HP:0002442	Dyscalculia	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0001270	Motor delay	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.		572
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.		51
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0012759	HP:0010864	Intellectual disability, severe	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0012759	HP:0001263	Global developmental delay	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0012759	HP:0010522	Dyslexia	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0012759	HP:0001263	Global developmental delay	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0012759	HP:0000750	Delayed speech and language development	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0012759	HP:0001263	Global developmental delay	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10	.		5
HP:0012759	HP:0001263	Global developmental delay	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0012759	HP:0001270	Motor delay	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0012759	HP:0001263	Global developmental delay	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0012759	HP:0001270	Motor delay	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0012759	HP:0001263	Global developmental delay	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63	.		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0001263	Global developmental delay	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0001270	Motor delay	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0012759	HP:0001263	Global developmental delay	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0012759	HP:0001263	Global developmental delay	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0012759	HP:0001256	Intellectual disability, mild	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0012759	HP:0001263	Global developmental delay	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0012759	HP:0000750	Delayed speech and language development	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0012759	HP:0001256	Intellectual disability, mild	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent		34
HP:0012759	HP:0001270	Motor delay	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0012759	HP:0001263	Global developmental delay	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0012759	HP:0000750	Delayed speech and language development	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0001256	Intellectual disability, mild	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0001270	Motor delay	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0001263	Global developmental delay	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012759	HP:0001263	Global developmental delay	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0012759	HP:0001263	Global developmental delay	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0012759	HP:0001263	Global developmental delay	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		118
HP:0012759	HP:0001263	Global developmental delay	2	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0012759	HP:0000750	Delayed speech and language development	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0001263	Global developmental delay	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0001270	Motor delay	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0012759	HP:0000750	Delayed speech and language development	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0012759	HP:0001263	Global developmental delay	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040281 - Very frequent		118
HP:0012759	HP:0000750	Delayed speech and language development	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0012759	HP:0001263	Global developmental delay	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0012759	HP:0000750	Delayed speech and language development	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0012759	HP:0001263	Global developmental delay	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0012759	HP:0001263	Global developmental delay	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0012759	HP:0001263	Global developmental delay	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0001263	Global developmental delay	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0010864	Intellectual disability, severe	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0012759	HP:0001263	Global developmental delay	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0012759	HP:0001263	Global developmental delay	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0012759	HP:0001263	Global developmental delay	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		247
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0012759	HP:0001263	Global developmental delay	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0012759	HP:0001270	Motor delay	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0012759	HP:0001263	Global developmental delay	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0012759	HP:0001263	Global developmental delay	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0012759	HP:0001263	Global developmental delay	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012759	HP:0001263	Global developmental delay	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0012759	HP:0001263	Global developmental delay	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0012759	HP:0001270	Motor delay	2	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0012759	HP:0000750	Delayed speech and language development	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0012759	HP:0002187	Intellectual disability, profound	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0012759	HP:0001263	Global developmental delay	2	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0012759	HP:0001263	Global developmental delay	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0012759	HP:0001263	Global developmental delay	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0012759	HP:0001263	Global developmental delay	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0012759	HP:0001270	Motor delay	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0010864	Intellectual disability, severe	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0012434	Delayed social development	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0000750	Delayed speech and language development	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012759	HP:0001263	Global developmental delay	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0000750	Delayed speech and language development	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012759	HP:0001263	Global developmental delay	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012759	HP:0001263	Global developmental delay	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0012759	HP:0001263	Global developmental delay	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		9
HP:0012759	HP:0001263	Global developmental delay	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0012759	HP:0001263	Global developmental delay	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		31
HP:0012759	HP:0001263	Global developmental delay	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0012759	HP:0001263	Global developmental delay	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0012759	HP:0000750	Delayed speech and language development	2	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0012759	HP:0001270	Motor delay	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0012759	HP:0001263	Global developmental delay	2	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0012759	HP:0001263	Global developmental delay	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0001270	Motor delay	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0001263	Global developmental delay	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0012759	HP:0000750	Delayed speech and language development	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0012759	HP:0001263	Global developmental delay	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0012759	HP:0001270	Motor delay	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0012759	HP:0001263	Global developmental delay	2	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012759	HP:0000750	Delayed speech and language development	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0012759	HP:0001270	Motor delay	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012759	HP:0001263	Global developmental delay	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0012759	HP:0010864	Intellectual disability, severe	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0012759	HP:0001263	Global developmental delay	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.		181
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.		181
HP:0012759	HP:0001263	Global developmental delay	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0012759	HP:0010864	Intellectual disability, severe	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0012759	HP:0001256	Intellectual disability, mild	2	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.		6
HP:0012759	HP:0001270	Motor delay	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0012759	HP:0001256	Intellectual disability, mild	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0012759	HP:0001263	Global developmental delay	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0012759	HP:0001270	Motor delay	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0012759	HP:0001263	Global developmental delay	2	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0012759	HP:0001270	Motor delay	2	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0012759	HP:0001263	Global developmental delay	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0012759	HP:0002187	Intellectual disability, profound	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.		405
HP:0012759	HP:0001263	Global developmental delay	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		405
HP:0012759	HP:0001263	Global developmental delay	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	HP:0040283 - Occasional		114
HP:0012759	HP:0000750	Delayed speech and language development	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0012759	HP:0001263	Global developmental delay	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0012759	HP:0001270	Motor delay	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0012759	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0012759	HP:0001263	Global developmental delay	2	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0012759	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0012759	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0012759	HP:0001263	Global developmental delay	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		200
HP:0012759	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0012759	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0012759	HP:0001263	Global developmental delay	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		50
HP:0012759	HP:0000750	Delayed speech and language development	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0001270	Motor delay	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0000750	Delayed speech and language development	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0012759	HP:0001263	Global developmental delay	2	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0012759	HP:0001263	Global developmental delay	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0012759	HP:0010864	Intellectual disability, severe	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0012759	HP:0000750	Delayed speech and language development	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0001263	Global developmental delay	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6	.		161
HP:0012759	HP:0001263	Global developmental delay	2	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0012759	HP:0001263	Global developmental delay	2	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0012759	HP:0001263	Global developmental delay	2	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0012759	HP:0001263	Global developmental delay	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0012759	HP:0001263	Global developmental delay	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0012759	HP:0001263	Global developmental delay	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0012759	HP:0010864	Intellectual disability, severe	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0012759	HP:0010864	Intellectual disability, severe	2	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.		38
HP:0012759	HP:0001263	Global developmental delay	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0012759	HP:0010864	Intellectual disability, severe	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0012759	HP:0001263	Global developmental delay	2	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0012759	HP:0001263	Global developmental delay	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0012759	HP:0001263	Global developmental delay	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0012759	HP:0001263	Global developmental delay	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0012759	HP:0001263	Global developmental delay	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		342
HP:0012759	HP:0001263	Global developmental delay	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		342
HP:0012759	HP:0001263	Global developmental delay	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0012759	HP:0001263	Global developmental delay	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0012759	HP:0001263	Global developmental delay	2	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.		90
HP:0012759	HP:0001263	Global developmental delay	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0012759	HP:0001263	Global developmental delay	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		17
HP:0012759	HP:0001256	Intellectual disability, mild	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0012759	HP:0001263	Global developmental delay	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0012759	HP:0010864	Intellectual disability, severe	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0012759	HP:0000750	Delayed speech and language development	2	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0012759	HP:0001263	Global developmental delay	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0012759	HP:0001263	Global developmental delay	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0012759	HP:0001263	Global developmental delay	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0012759	HP:0000750	Delayed speech and language development	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0012759	HP:0001263	Global developmental delay	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0012759	HP:0001270	Motor delay	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0012759	HP:0000750	Delayed speech and language development	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0001263	Global developmental delay	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0012759	HP:0001270	Motor delay	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0001270	Motor delay	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0012759	HP:0002442	Dyscalculia	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0012759	HP:0000750	Delayed speech and language development	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0012759	HP:0001263	Global developmental delay	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0012759	HP:0000750	Delayed speech and language development	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0012759	HP:0001270	Motor delay	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0012759	HP:0000750	Delayed speech and language development	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0012759	HP:0001270	Motor delay	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0012759	HP:0001263	Global developmental delay	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0012759	HP:0001263	Global developmental delay	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0012759	HP:0001270	Motor delay	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0012759	HP:0000750	Delayed speech and language development	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0001263	Global developmental delay	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0001270	Motor delay	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0012759	HP:0000750	Delayed speech and language development	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0001263	Global developmental delay	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0001270	Motor delay	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0000750	Delayed speech and language development	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0012759	HP:0001270	Motor delay	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0012759	HP:0000750	Delayed speech and language development	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0001263	Global developmental delay	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0012759	HP:0001270	Motor delay	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0002442	Dyscalculia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0012759	HP:0010522	Dyslexia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0012759	HP:0002442	Dyscalculia	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0012759	HP:0010522	Dyslexia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0012759	HP:0001263	Global developmental delay	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0012759	HP:0001270	Motor delay	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0012759	HP:0001270	Motor delay	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0012759	HP:0001256	Intellectual disability, mild	2	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		188
HP:0012759	HP:0001256	Intellectual disability, mild	2	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		225
HP:0012759	HP:0001263	Global developmental delay	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040282 - Frequent		52
HP:0012759	HP:0001256	Intellectual disability, mild	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0010864	Intellectual disability, severe	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0012759	HP:0001270	Motor delay	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0001270	Motor delay	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0012759	HP:0001256	Intellectual disability, mild	2	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		88
HP:0012759	HP:0001270	Motor delay	2	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0012759	HP:0001270	Motor delay	2	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0012759	HP:0001270	Motor delay	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0012759	HP:0001270	Motor delay	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0012759	HP:0001270	Motor delay	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0012759	HP:0001263	Global developmental delay	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0012759	HP:0001270	Motor delay	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0012759	HP:0001270	Motor delay	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0012759	HP:0001270	Motor delay	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0012759	HP:0001270	Motor delay	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0012759	HP:0001270	Motor delay	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0012759	HP:0001263	Global developmental delay	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0012759	HP:0001263	Global developmental delay	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0012759	HP:0001270	Motor delay	2	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.		15
HP:0012759	HP:0000750	Delayed speech and language development	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012759	HP:0001263	Global developmental delay	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.		39
HP:0012759	HP:0001270	Motor delay	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012759	HP:0001263	Global developmental delay	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0012759	HP:0010864	Intellectual disability, severe	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0012759	HP:0001263	Global developmental delay	2	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0012759	HP:0001263	Global developmental delay	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0000750	Delayed speech and language development	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0001263	Global developmental delay	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0001270	Motor delay	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0000750	Delayed speech and language development	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0001263	Global developmental delay	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0001270	Motor delay	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0001263	Global developmental delay	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040281 - Very frequent		45
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040282 - Frequent		45
HP:0012759	HP:0010864	Intellectual disability, severe	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040282 - Frequent		45
HP:0012759	HP:0000750	Delayed speech and language development	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0012759	HP:0001256	Intellectual disability, mild	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0012759	HP:0001263	Global developmental delay	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0012759	HP:0001263	Global developmental delay	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012759	HP:0001270	Motor delay	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012759	HP:0001270	Motor delay	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012759	HP:0001270	Motor delay	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0012759	HP:0001270	Motor delay	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0012759	HP:0001270	Motor delay	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0012759	HP:0001270	Motor delay	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0012759	HP:0000750	Delayed speech and language development	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0001270	Motor delay	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0006889	Intellectual disability, borderline	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0000750	Delayed speech and language development	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0001263	Global developmental delay	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0002187	Intellectual disability, profound	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0000750	Delayed speech and language development	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0002187	Intellectual disability, profound	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0012759	HP:0033044	Motor regression	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0012759	HP:0000750	Delayed speech and language development	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0012759	HP:0001263	Global developmental delay	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0012759	HP:0000750	Delayed speech and language development	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0012759	HP:0001270	Motor delay	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0012759	HP:0000750	Delayed speech and language development	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0012759	HP:0001263	Global developmental delay	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0012759	HP:0001270	Motor delay	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012759	HP:0001263	Global developmental delay	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040281 - Very frequent		38
HP:0012759	HP:0000750	Delayed speech and language development	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012759	HP:0001263	Global developmental delay	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012759	HP:0001263	Global developmental delay	2	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0012759	HP:0000750	Delayed speech and language development	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012759	HP:0001263	Global developmental delay	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012759	HP:0001263	Global developmental delay	2	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0001263	Global developmental delay	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0001270	Motor delay	2	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0000750	Delayed speech and language development	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0012759	HP:0001263	Global developmental delay	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0012759	HP:0000750	Delayed speech and language development	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0012759	HP:0001263	Global developmental delay	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0012759	HP:0001263	Global developmental delay	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0001263	Global developmental delay	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0001270	Motor delay	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0012759	HP:0000750	Delayed speech and language development	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0012759	HP:0001270	Motor delay	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0012759	HP:0001263	Global developmental delay	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0001270	Motor delay	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0001263	Global developmental delay	2	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0012759	HP:0002187	Intellectual disability, profound	2	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0012759	HP:0000750	Delayed speech and language development	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0001263	Global developmental delay	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0001270	Motor delay	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0010864	Intellectual disability, severe	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0000750	Delayed speech and language development	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0012759	HP:0001263	Global developmental delay	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0012759	HP:0001270	Motor delay	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0012759	HP:0001263	Global developmental delay	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0012759	HP:0000750	Delayed speech and language development	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012759	HP:0000750	Delayed speech and language development	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0012759	HP:0001256	Intellectual disability, mild	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0012759	HP:0001263	Global developmental delay	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0012759	HP:0002342	Intellectual disability, moderate	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0012759	HP:0000750	Delayed speech and language development	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0012759	HP:0001263	Global developmental delay	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0012759	HP:0001270	Motor delay	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0012759	HP:0001263	Global developmental delay	2	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0012759	HP:0001263	Global developmental delay	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0012759	HP:0000750	Delayed speech and language development	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0012759	HP:0000750	Delayed speech and language development	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0012759	HP:0001263	Global developmental delay	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0012759	HP:0001270	Motor delay	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0012759	HP:0000750	Delayed speech and language development	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040281 - Very frequent		79
HP:0012759	HP:0001256	Intellectual disability, mild	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0012759	HP:0001270	Motor delay	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040281 - Very frequent		79
HP:0012759	HP:0002342	Intellectual disability, moderate	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0012759	HP:0010864	Intellectual disability, severe	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0012759	HP:0000750	Delayed speech and language development	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0012759	HP:0001270	Motor delay	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0012759	HP:0001263	Global developmental delay	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012759	HP:0000750	Delayed speech and language development	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0012759	HP:0012434	Delayed social development	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0012759	HP:0000750	Delayed speech and language development	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0012759	HP:0001263	Global developmental delay	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012759	HP:0001263	Global developmental delay	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012759	HP:0000750	Delayed speech and language development	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0001263	Global developmental delay	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0001270	Motor delay	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0012759	HP:0001270	Motor delay	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent		65
HP:0012759	HP:0001270	Motor delay	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0012759	HP:0001270	Motor delay	2	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional		6
HP:0012759	HP:0001270	Motor delay	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0012759	HP:0001270	Motor delay	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0012759	HP:0001263	Global developmental delay	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0012759	HP:0001270	Motor delay	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0012759	HP:0001270	Motor delay	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0012759	HP:0001263	Global developmental delay	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0012759	HP:0002342	Intellectual disability, moderate	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0012759	HP:0001270	Motor delay	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0012759	HP:0001263	Global developmental delay	2	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	HP:0040284 - Very rare		1
HP:0012759	HP:0001270	Motor delay	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0012759	HP:0001270	Motor delay	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0012759	HP:0001270	Motor delay	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0012759	HP:0000750	Delayed speech and language development	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	HP:0040284 - Very rare		749
HP:0012759	HP:0001270	Motor delay	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	HP:0040284 - Very rare		749
HP:0012759	HP:0001263	Global developmental delay	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0012759	HP:0001263	Global developmental delay	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0012759	HP:0001263	Global developmental delay	2	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0012759	HP:0001270	Motor delay	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0012759	HP:0001270	Motor delay	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0012759	HP:0001270	Motor delay	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0012759	HP:0001270	Motor delay	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0012759	HP:0001270	Motor delay	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0012759	HP:0001270	Motor delay	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0012759	HP:0001270	Motor delay	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0012759	HP:0001270	Motor delay	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0012759	HP:0001263	Global developmental delay	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0012759	HP:0001263	Global developmental delay	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0012759	HP:0001263	Global developmental delay	2	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0012759	HP:0001263	Global developmental delay	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0012759	HP:0001256	Intellectual disability, mild	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0000750	Delayed speech and language development	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0001270	Motor delay	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0010864	Intellectual disability, severe	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0001263	Global developmental delay	2	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012759	HP:0001263	Global developmental delay	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0012759	HP:0001263	Global developmental delay	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012759	HP:0001270	Motor delay	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0012759	HP:0002342	Intellectual disability, moderate	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012759	HP:0001263	Global developmental delay	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0012759	HP:0001263	Global developmental delay	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012759	HP:0001270	Motor delay	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent		136
HP:0012759	HP:0001263	Global developmental delay	2	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional		136
HP:0012759	HP:0001263	Global developmental delay	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0012759	HP:0001263	Global developmental delay	2	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.		7
HP:0012759	HP:0001263	Global developmental delay	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012759	HP:0001263	Global developmental delay	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0012759	HP:0010864	Intellectual disability, severe	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0012759	HP:0001263	Global developmental delay	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012759	HP:0001263	Global developmental delay	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0012759	HP:0001263	Global developmental delay	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001263	Global developmental delay	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0012759	HP:0001263	Global developmental delay	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012759	HP:0001270	Motor delay	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012759	HP:0001263	Global developmental delay	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0012759	HP:0001263	Global developmental delay	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0012759	HP:0000750	Delayed speech and language development	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0012759	HP:0001263	Global developmental delay	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0012759	HP:0001270	Motor delay	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0001263	Global developmental delay	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0001270	Motor delay	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0006889	Intellectual disability, borderline	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0012759	HP:0001263	Global developmental delay	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0012759	HP:0001263	Global developmental delay	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0012759	HP:0001263	Global developmental delay	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012759	HP:0001270	Motor delay	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012759	HP:0000750	Delayed speech and language development	2	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.		6
HP:0012759	HP:0000750	Delayed speech and language development	2	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0012759	HP:0001270	Motor delay	2	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0012759	HP:0001263	Global developmental delay	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		156
HP:0012759	HP:0000750	Delayed speech and language development	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0001256	Intellectual disability, mild	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.		19
HP:0012759	HP:0001263	Global developmental delay	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.		19
HP:0012759	HP:0001270	Motor delay	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0010864	Intellectual disability, severe	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.		19
HP:0012759	HP:0001270	Motor delay	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0000750	Delayed speech and language development	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0012759	HP:0001263	Global developmental delay	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0012759	HP:0000750	Delayed speech and language development	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040281 - Very frequent		291
HP:0012759	HP:0000750	Delayed speech and language development	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0012759	HP:0001256	Intellectual disability, mild	2	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		1
HP:0012759	HP:0001263	Global developmental delay	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0012759	HP:0001263	Global developmental delay	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0012759	HP:0002187	Intellectual disability, profound	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0012759	HP:0001263	Global developmental delay	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		158
HP:0012759	HP:0001263	Global developmental delay	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare		149
HP:0012759	HP:0001270	Motor delay	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012759	HP:0000750	Delayed speech and language development	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0012759	HP:0001263	Global developmental delay	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0012759	HP:0001270	Motor delay	2	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0001263	Global developmental delay	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0001263	Global developmental delay	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0012759	HP:0000750	Delayed speech and language development	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0012759	HP:0001263	Global developmental delay	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0012759	HP:0001256	Intellectual disability, mild	2	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0012759	HP:0000750	Delayed speech and language development	2	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.		2
HP:0012759	HP:0001270	Motor delay	2	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0012759	HP:0000750	Delayed speech and language development	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0012759	HP:0001263	Global developmental delay	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0012759	HP:0001263	Global developmental delay	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0012759	HP:0001270	Motor delay	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0012759	HP:0001256	Intellectual disability, mild	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0001263	Global developmental delay	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0012759	HP:0000750	Delayed speech and language development	2	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0012759	HP:0001263	Global developmental delay	2	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0012759	HP:0001263	Global developmental delay	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0012759	HP:0001256	Intellectual disability, mild	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0012759	HP:0001263	Global developmental delay	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012759	HP:0001270	Motor delay	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0012759	HP:0001263	Global developmental delay	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0012759	HP:0001270	Motor delay	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0001270	Motor delay	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent		88
HP:0012759	HP:0001263	Global developmental delay	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0012759	HP:0010864	Intellectual disability, severe	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0012759	HP:0001263	Global developmental delay	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012759	HP:0006887	Intellectual disability, progressive	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0012759	HP:0010864	Intellectual disability, severe	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0012759	HP:0001263	Global developmental delay	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012759	HP:0000750	Delayed speech and language development	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0012759	HP:0001270	Motor delay	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0012759	HP:0000750	Delayed speech and language development	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0001256	Intellectual disability, mild	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0001270	Motor delay	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0010864	Intellectual disability, severe	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0000750	Delayed speech and language development	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0012759	HP:0001270	Motor delay	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0012759	HP:0000750	Delayed speech and language development	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0012759	HP:0010864	Intellectual disability, severe	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0012759	HP:0001263	Global developmental delay	2	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	.		1
HP:0012759	HP:0001263	Global developmental delay	2	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0012759	HP:0000750	Delayed speech and language development	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001270	Motor delay	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0012759	HP:0000750	Delayed speech and language development	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0001263	Global developmental delay	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0001270	Motor delay	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0000750	Delayed speech and language development	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0012759	HP:0002342	Intellectual disability, moderate	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0012759	HP:0000750	Delayed speech and language development	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0012759	HP:0001256	Intellectual disability, mild	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0012759	HP:0001263	Global developmental delay	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.		9
HP:0012759	HP:0001263	Global developmental delay	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0012759	HP:0010864	Intellectual disability, severe	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0012759	HP:0001263	Global developmental delay	2	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0012759	HP:0000750	Delayed speech and language development	2	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0012759	HP:0000750	Delayed speech and language development	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0002442	Dyscalculia	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012759	HP:0001270	Motor delay	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0012759	HP:0001270	Motor delay	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0012759	HP:0001270	Motor delay	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040282 - Frequent		18
HP:0012759	HP:0001270	Motor delay	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.		18
HP:0012759	HP:0001270	Motor delay	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0012759	HP:0001263	Global developmental delay	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0012759	HP:0001256	Intellectual disability, mild	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0012759	HP:0001270	Motor delay	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent		108
HP:0012759	HP:0010864	Intellectual disability, severe	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent		108
HP:0012759	HP:0000750	Delayed speech and language development	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0001263	Global developmental delay	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0001270	Motor delay	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0010864	Intellectual disability, severe	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012759	HP:0000750	Delayed speech and language development	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0012759	HP:0001263	Global developmental delay	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0012759	HP:0000750	Delayed speech and language development	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0012759	HP:0001263	Global developmental delay	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0012759	HP:0001263	Global developmental delay	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0012759	HP:0000750	Delayed speech and language development	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0001263	Global developmental delay	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0000750	Delayed speech and language development	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012759	HP:0001270	Motor delay	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012759	HP:0000750	Delayed speech and language development	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012759	HP:0001270	Motor delay	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0001270	Motor delay	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0012759	HP:0001263	Global developmental delay	2	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0012759	HP:0001256	Intellectual disability, mild	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0012759	HP:0001256	Intellectual disability, mild	2	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare		36
HP:0012759	HP:0000750	Delayed speech and language development	2	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0012759	HP:0001263	Global developmental delay	2	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0012759	HP:0001256	Intellectual disability, mild	2	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	HP:0040284 - Very rare		36
HP:0012759	HP:0001256	Intellectual disability, mild	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0012759	HP:0001263	Global developmental delay	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		27
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0012759	HP:0000750	Delayed speech and language development	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0012759	HP:0001263	Global developmental delay	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0012759	HP:0001270	Motor delay	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0012759	HP:0006887	Intellectual disability, progressive	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0012759	HP:0001263	Global developmental delay	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.		43
HP:0012759	HP:0001263	Global developmental delay	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent		29
HP:0012759	HP:0001263	Global developmental delay	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0012759	HP:0001263	Global developmental delay	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.		62
HP:0012759	HP:0001270	Motor delay	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0012759	HP:0001263	Global developmental delay	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0012759	HP:0001263	Global developmental delay	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0012759	HP:0001263	Global developmental delay	2	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0001263	Global developmental delay	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0012759	HP:0000750	Delayed speech and language development	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012759	HP:0001263	Global developmental delay	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012759	HP:0000750	Delayed speech and language development	2	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0012759	HP:0001263	Global developmental delay	2	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0012759	HP:0001263	Global developmental delay	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0012759	HP:0001263	Global developmental delay	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0000750	Delayed speech and language development	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012759	HP:0001263	Global developmental delay	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012759	HP:0000750	Delayed speech and language development	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0012759	HP:0001263	Global developmental delay	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0012759	HP:0001256	Intellectual disability, mild	2	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		172
HP:0012759	HP:0001263	Global developmental delay	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0012759	HP:0001263	Global developmental delay	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0012759	HP:0001263	Global developmental delay	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0012759	HP:0000750	Delayed speech and language development	2	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities	.		47
HP:0012759	HP:0001263	Global developmental delay	2	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0012759	HP:0000750	Delayed speech and language development	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012759	HP:0001263	Global developmental delay	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0012759	HP:0001270	Motor delay	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012759	HP:0000750	Delayed speech and language development	2	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0012759	HP:0001263	Global developmental delay	2	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0012759	HP:0001263	Global developmental delay	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012759	HP:0000750	Delayed speech and language development	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012759	HP:0001263	Global developmental delay	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0012759	HP:0001270	Motor delay	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012759	HP:0001263	Global developmental delay	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012759	HP:0001263	Global developmental delay	2	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.		670
HP:0012759	HP:0001263	Global developmental delay	2	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type			4
HP:0012759	HP:0001263	Global developmental delay	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0012759	HP:0001263	Global developmental delay	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0012759	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0012759	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0012759	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0012759	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0012759	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0012759	HP:0001263	Global developmental delay	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0012759	HP:0001263	Global developmental delay	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0001256	Intellectual disability, mild	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0012759	HP:0001263	Global developmental delay	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0012759	HP:0001270	Motor delay	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0001270	Motor delay	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0010864	Intellectual disability, severe	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040281 - Very frequent		89
HP:0012759	HP:0000750	Delayed speech and language development	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0001263	Global developmental delay	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0001270	Motor delay	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0012759	HP:0001256	Intellectual disability, mild	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0001263	Global developmental delay	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0012759	HP:0001270	Motor delay	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0012759	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0012759	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0012759	HP:0001263	Global developmental delay	2	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0012759	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0012759	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0012759	HP:0000750	Delayed speech and language development	2	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0012759	HP:0001256	Intellectual disability, mild	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0012759	HP:0001263	Global developmental delay	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0012759	HP:0001270	Motor delay	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0012759	HP:0001270	Motor delay	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0012759	HP:0000750	Delayed speech and language development	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0012759	HP:0006887	Intellectual disability, progressive	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0012759	HP:0010864	Intellectual disability, severe	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	HP:0003577 - Congenital onset	152
HP:0012759	HP:0001263	Global developmental delay	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0012759	HP:0002187	Intellectual disability, profound	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0012759	HP:0001263	Global developmental delay	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0012759	HP:0001270	Motor delay	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0012759	HP:0010522	Dyslexia	2	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.		27
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0001256	Intellectual disability, mild	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0001263	Global developmental delay	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0012759	HP:0001270	Motor delay	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012759	HP:0001263	Global developmental delay	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040284 - Very rare		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0012759	HP:0001263	Global developmental delay	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0000750	Delayed speech and language development	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0012759	HP:0001256	Intellectual disability, mild	2	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare		2
HP:0012759	HP:0001270	Motor delay	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012759	HP:0000750	Delayed speech and language development	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0012759	HP:0001263	Global developmental delay	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	HP:0040283 - Occasional		72
HP:0012759	HP:0000750	Delayed speech and language development	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0012759	HP:0001263	Global developmental delay	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0012759	HP:0001263	Global developmental delay	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0012759	HP:0000750	Delayed speech and language development	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012759	HP:0001263	Global developmental delay	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0012759	HP:0001263	Global developmental delay	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0012759	HP:0001270	Motor delay	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012759	HP:0001270	Motor delay	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012759	HP:0001270	Motor delay	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.		167
HP:0012759	HP:0000750	Delayed speech and language development	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0012759	HP:0001263	Global developmental delay	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0012759	HP:0001256	Intellectual disability, mild	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0012759	HP:0001263	Global developmental delay	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0012759	HP:0010864	Intellectual disability, severe	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0012759	HP:0001263	Global developmental delay	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0012759	HP:0000750	Delayed speech and language development	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0001263	Global developmental delay	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.		3
HP:0012759	HP:0001270	Motor delay	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0001263	Global developmental delay	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0012759	HP:0001263	Global developmental delay	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0012759	HP:0000750	Delayed speech and language development	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0001263	Global developmental delay	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0001270	Motor delay	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0012759	HP:0000750	Delayed speech and language development	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0001263	Global developmental delay	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0001270	Motor delay	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0001256	Intellectual disability, mild	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare		9
HP:0012759	HP:0001263	Global developmental delay	2	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare		9
HP:0012759	HP:0001263	Global developmental delay	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0012759	HP:0001270	Motor delay	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		38
HP:0012759	HP:0000750	Delayed speech and language development	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0012759	HP:0010864	Intellectual disability, severe	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0012759	HP:0001270	Motor delay	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	.		38
HP:0012759	HP:0000750	Delayed speech and language development	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0002342	Intellectual disability, moderate	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0012759	HP:0001263	Global developmental delay	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0012759	HP:0001270	Motor delay	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012759	HP:0001263	Global developmental delay	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0012759	HP:0001263	Global developmental delay	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0001270	Motor delay	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0033044	Motor regression	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0000750	Delayed speech and language development	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0001263	Global developmental delay	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0002187	Intellectual disability, profound	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0001263	Global developmental delay	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0012759	HP:0001263	Global developmental delay	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0012759	HP:0000750	Delayed speech and language development	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0012759	HP:0001263	Global developmental delay	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0012759	HP:0002187	Intellectual disability, profound	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0012759	HP:0001270	Motor delay	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0000750	Delayed speech and language development	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent		144
HP:0012759	HP:0001256	Intellectual disability, mild	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0012759	HP:0001263	Global developmental delay	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0012759	HP:0000750	Delayed speech and language development	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0012759	HP:0000750	Delayed speech and language development	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0001263	Global developmental delay	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040282 - Frequent		144
HP:0012759	HP:0001270	Motor delay	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0012759	HP:0002187	Intellectual disability, profound	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0012759	HP:0000750	Delayed speech and language development	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0012759	HP:0000750	Delayed speech and language development	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0001263	Global developmental delay	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0001270	Motor delay	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0010864	Intellectual disability, severe	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0000750	Delayed speech and language development	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0012759	HP:0001270	Motor delay	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0012759	HP:0001270	Motor delay	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0012759	HP:0001263	Global developmental delay	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012759	HP:0001256	Intellectual disability, mild	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0012759	HP:0001263	Global developmental delay	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012759	HP:0001263	Global developmental delay	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0012759	HP:0001263	Global developmental delay	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0012759	HP:0001263	Global developmental delay	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0000750	Delayed speech and language development	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0012759	HP:0001256	Intellectual disability, mild	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0012759	HP:0001263	Global developmental delay	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0012759	HP:0001270	Motor delay	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0012759	HP:0010864	Intellectual disability, severe	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0012759	HP:0000750	Delayed speech and language development	2	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0012759	HP:0001263	Global developmental delay	2	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0012759	HP:0001270	Motor delay	2	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.		427
HP:0012759	HP:0001263	Global developmental delay	2	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0012759	HP:0001263	Global developmental delay	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	HP:0040283 - Occasional		427
HP:0012759	HP:0001270	Motor delay	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0012759	HP:0000750	Delayed speech and language development	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0001263	Global developmental delay	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0001270	Motor delay	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0000750	Delayed speech and language development	2	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0012759	HP:0001256	Intellectual disability, mild	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0012759	HP:0001263	Global developmental delay	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040281 - Very frequent		134
HP:0012759	HP:0000750	Delayed speech and language development	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0012759	HP:0001263	Global developmental delay	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0012759	HP:0001270	Motor delay	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0012759	HP:0000750	Delayed speech and language development	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0001263	Global developmental delay	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0010864	Intellectual disability, severe	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0000750	Delayed speech and language development	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012759	HP:0001263	Global developmental delay	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0012759	HP:0000750	Delayed speech and language development	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0001263	Global developmental delay	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0001270	Motor delay	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0002342	Intellectual disability, moderate	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0012759	HP:0001263	Global developmental delay	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0012759	HP:0001263	Global developmental delay	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0012759	HP:0001263	Global developmental delay	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0012759	HP:0010864	Intellectual disability, severe	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0012759	HP:0001256	Intellectual disability, mild	2	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.		1
HP:0012759	HP:0001263	Global developmental delay	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0012759	HP:0001263	Global developmental delay	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001263	Global developmental delay	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0012759	HP:0000750	Delayed speech and language development	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0012759	HP:0001263	Global developmental delay	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0012759	HP:0000750	Delayed speech and language development	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0012759	HP:0001263	Global developmental delay	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0012759	HP:0010864	Intellectual disability, severe	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0012759	HP:0000750	Delayed speech and language development	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0012759	HP:0001270	Motor delay	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		45
HP:0012759	HP:0001263	Global developmental delay	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0012759	HP:0001263	Global developmental delay	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0012759	HP:0000750	Delayed speech and language development	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0012759	HP:0001263	Global developmental delay	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0012759	HP:0000750	Delayed speech and language development	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0001263	Global developmental delay	2	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0012759	HP:0002342	Intellectual disability, moderate	2	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0012759	HP:0001270	Motor delay	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0012759	HP:0001270	Motor delay	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0012759	HP:0000750	Delayed speech and language development	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0012759	HP:0010864	Intellectual disability, severe	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	.		223
HP:0012759	HP:0001263	Global developmental delay	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0012759	HP:0000750	Delayed speech and language development	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0012759	HP:0001263	Global developmental delay	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040281 - Very frequent		223
HP:0012759	HP:0001270	Motor delay	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0012759	HP:0000750	Delayed speech and language development	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0001270	Motor delay	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0001263	Global developmental delay	2	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0012759	HP:0000750	Delayed speech and language development	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012759	HP:0001263	Global developmental delay	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0012759	HP:0001263	Global developmental delay	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012759	HP:0000750	Delayed speech and language development	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0012759	HP:0001263	Global developmental delay	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012759	HP:0001263	Global developmental delay	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012759	HP:0010864	Intellectual disability, severe	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0000750	Delayed speech and language development	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0001263	Global developmental delay	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0001270	Motor delay	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0000750	Delayed speech and language development	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0012759	HP:0001263	Global developmental delay	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0012759	HP:0001263	Global developmental delay	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.		67
HP:0012759	HP:0001263	Global developmental delay	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0012759	HP:0001270	Motor delay	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012759	HP:0001270	Motor delay	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012759	HP:0001263	Global developmental delay	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0012759	HP:0002187	Intellectual disability, profound	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0012759	HP:0000750	Delayed speech and language development	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0012759	HP:0001263	Global developmental delay	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0012759	HP:0000750	Delayed speech and language development	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0012759	HP:0001263	Global developmental delay	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0012759	HP:0000750	Delayed speech and language development	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0002187	Intellectual disability, profound	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0001256	Intellectual disability, mild	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0001263	Global developmental delay	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0012759	HP:0001263	Global developmental delay	2	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0012759	HP:0001270	Motor delay	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0012759	HP:0001263	Global developmental delay	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012759	HP:0006889	Intellectual disability, borderline	2	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0001270	Motor delay	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0012759	HP:0001263	Global developmental delay	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0012759	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0012759	HP:0001256	Intellectual disability, mild	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0012759	HP:0001263	Global developmental delay	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0012759	HP:0001270	Motor delay	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0012759	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0012759	HP:0001263	Global developmental delay	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0012759	HP:0010864	Intellectual disability, severe	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0012759	HP:0001263	Global developmental delay	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0012759	HP:0001270	Motor delay	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0012759	HP:0033044	Motor regression	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012759	HP:0001263	Global developmental delay	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0012759	HP:0001270	Motor delay	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012759	HP:0034332	Cognitive regression	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012759	HP:0001263	Global developmental delay	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0012759	HP:0001263	Global developmental delay	2	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0012759	HP:0001263	Global developmental delay	2	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0012759	HP:0001263	Global developmental delay	2	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0012759	HP:0001263	Global developmental delay	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0012759	HP:0000750	Delayed speech and language development	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0012759	HP:0001263	Global developmental delay	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0012759	HP:0001263	Global developmental delay	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0012759	HP:0001263	Global developmental delay	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0012759	HP:0001263	Global developmental delay	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0012759	HP:0001263	Global developmental delay	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0012759	HP:0001256	Intellectual disability, mild	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0012759	HP:0001263	Global developmental delay	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0012759	HP:0001263	Global developmental delay	2	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0012759	HP:0006887	Intellectual disability, progressive	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0012759	HP:0001263	Global developmental delay	2	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0012759	HP:0001263	Global developmental delay	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0012759	HP:0001263	Global developmental delay	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012759	HP:0002187	Intellectual disability, profound	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0012759	HP:0001256	Intellectual disability, mild	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0012759	HP:0001263	Global developmental delay	2	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0012759	HP:0001263	Global developmental delay	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012759	HP:0001263	Global developmental delay	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012759	HP:0001256	Intellectual disability, mild	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0012759	HP:0000750	Delayed speech and language development	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0012759	HP:0000750	Delayed speech and language development	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0012759	HP:0000750	Delayed speech and language development	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0012759	HP:0001263	Global developmental delay	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0012759	HP:0000750	Delayed speech and language development	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0012759	HP:0010864	Intellectual disability, severe	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0000750	Delayed speech and language development	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0012759	HP:0001270	Motor delay	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0012759	HP:0000750	Delayed speech and language development	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001256	Intellectual disability, mild	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0001263	Global developmental delay	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0000750	Delayed speech and language development	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.		36
HP:0012759	HP:0001263	Global developmental delay	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.		36
HP:0012759	HP:0001263	Global developmental delay	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0012759	HP:0001263	Global developmental delay	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012759	HP:0001270	Motor delay	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0012759	HP:0001263	Global developmental delay	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0012759	HP:0001263	Global developmental delay	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012759	HP:0000750	Delayed speech and language development	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012759	HP:0001270	Motor delay	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012759	HP:0001270	Motor delay	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012759	HP:0000750	Delayed speech and language development	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0012759	HP:0000750	Delayed speech and language development	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0002187	Intellectual disability, profound	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012759	HP:0001270	Motor delay	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012759	HP:0001270	Motor delay	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012759	HP:0001263	Global developmental delay	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0012759	HP:0001263	Global developmental delay	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		102
HP:0012759	HP:0001263	Global developmental delay	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0012759	HP:0001270	Motor delay	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0012759	HP:0000750	Delayed speech and language development	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040281 - Very frequent		102
HP:0012759	HP:0001256	Intellectual disability, mild	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0012759	HP:0001263	Global developmental delay	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040281 - Very frequent		102
HP:0012759	HP:0002342	Intellectual disability, moderate	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0012759	HP:0010864	Intellectual disability, severe	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0012759	HP:0001270	Motor delay	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0012759	HP:0001263	Global developmental delay	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001270	Motor delay	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0012759	HP:0001263	Global developmental delay	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0000750	Delayed speech and language development	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0012759	HP:0001256	Intellectual disability, mild	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012759	HP:0001263	Global developmental delay	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0012759	HP:0001263	Global developmental delay	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0012759	HP:0001263	Global developmental delay	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0012759	HP:0001263	Global developmental delay	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0012759	HP:0001263	Global developmental delay	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0012759	HP:0001263	Global developmental delay	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0012759	HP:0001263	Global developmental delay	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0012759	HP:0001263	Global developmental delay	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0012759	HP:0001263	Global developmental delay	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0012759	HP:0001263	Global developmental delay	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0012759	HP:0001263	Global developmental delay	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0012759	HP:0000750	Delayed speech and language development	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0012759	HP:0001263	Global developmental delay	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0012759	HP:0001263	Global developmental delay	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0012759	HP:0001263	Global developmental delay	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0012759	HP:0001263	Global developmental delay	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.		53
HP:0012759	HP:0001263	Global developmental delay	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0012759	HP:0000750	Delayed speech and language development	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0001270	Motor delay	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0001263	Global developmental delay	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0002187	Intellectual disability, profound	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012759	HP:0000750	Delayed speech and language development	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0012759	HP:0001263	Global developmental delay	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent		36
HP:0012759	HP:0001263	Global developmental delay	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0012759	HP:0001263	Global developmental delay	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0012759	HP:0001263	Global developmental delay	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0001270	Motor delay	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0001263	Global developmental delay	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0001270	Motor delay	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0001263	Global developmental delay	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		114
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0012759	HP:0010864	Intellectual disability, severe	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0012759	HP:0001256	Intellectual disability, mild	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012759	HP:0000750	Delayed speech and language development	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0001270	Motor delay	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0012759	HP:0001270	Motor delay	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0012759	HP:0001270	Motor delay	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent		63
HP:0012759	HP:0001270	Motor delay	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0012759	HP:0001270	Motor delay	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0012759	HP:0001256	Intellectual disability, mild	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0012759	HP:0001256	Intellectual disability, mild	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0012759	HP:0001270	Motor delay	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0012759	HP:0000750	Delayed speech and language development	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0012759	HP:0001263	Global developmental delay	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0012759	HP:0001270	Motor delay	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0012759	HP:0001263	Global developmental delay	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012759	HP:0000750	Delayed speech and language development	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0012759	HP:0001263	Global developmental delay	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0012759	HP:0001270	Motor delay	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0012759	HP:0001263	Global developmental delay	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012759	HP:0000750	Delayed speech and language development	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0012759	HP:0001270	Motor delay	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0012759	HP:0000750	Delayed speech and language development	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0001263	Global developmental delay	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0012759	HP:0001263	Global developmental delay	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0012759	HP:0010864	Intellectual disability, severe	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012759	HP:0001263	Global developmental delay	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0012759	HP:0001270	Motor delay	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0012759	HP:0000750	Delayed speech and language development	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012759	HP:0001256	Intellectual disability, mild	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0012759	HP:0001263	Global developmental delay	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0012759	HP:0001270	Motor delay	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012759	HP:0001263	Global developmental delay	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional		47
HP:0012759	HP:0001270	Motor delay	2	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0012759	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0012759	HP:0001263	Global developmental delay	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0012759	HP:0001263	Global developmental delay	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0012759	HP:0001263	Global developmental delay	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0012759	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0012759	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0012759	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0012759	HP:0001263	Global developmental delay	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0012759	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0012759	HP:0001263	Global developmental delay	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0012759	HP:0001256	Intellectual disability, mild	2	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040282 - Frequent		175
HP:0012759	HP:0001263	Global developmental delay	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0012759	HP:0001263	Global developmental delay	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0012759	HP:0001270	Motor delay	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0012759	HP:0010864	Intellectual disability, severe	2	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040281 - Very frequent		145
HP:0012759	HP:0002187	Intellectual disability, profound	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0012759	HP:0002187	Intellectual disability, profound	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0012759	HP:0001263	Global developmental delay	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0012759	HP:0010864	Intellectual disability, severe	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0012759	HP:0001263	Global developmental delay	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0012759	HP:0002187	Intellectual disability, profound	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0012759	HP:0000750	Delayed speech and language development	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent		111
HP:0012759	HP:0001263	Global developmental delay	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040282 - Frequent		111
HP:0012759	HP:0001270	Motor delay	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0012759	HP:0001270	Motor delay	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	HP:0040283 - Occasional		111
HP:0012759	HP:0001263	Global developmental delay	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0012759	HP:0001263	Global developmental delay	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012759	HP:0001263	Global developmental delay	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0001270	Motor delay	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0001270	Motor delay	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0012759	HP:0001270	Motor delay	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0012759	HP:0001256	Intellectual disability, mild	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0012759	HP:0001263	Global developmental delay	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		157
HP:0012759	HP:0001263	Global developmental delay	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0012759	HP:0001270	Motor delay	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0012759	HP:0010864	Intellectual disability, severe	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0012759	HP:0001270	Motor delay	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0012759	HP:0001270	Motor delay	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional		157
HP:0012759	HP:0000750	Delayed speech and language development	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0001263	Global developmental delay	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0002187	Intellectual disability, profound	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0012759	HP:0010864	Intellectual disability, severe	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0012759	HP:0001270	Motor delay	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0012759	HP:0002187	Intellectual disability, profound	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0012759	HP:0001270	Motor delay	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0012759	HP:0001263	Global developmental delay	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0012759	HP:0001270	Motor delay	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0012759	HP:0000750	Delayed speech and language development	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent		184
HP:0012759	HP:0001263	Global developmental delay	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent		184
HP:0012759	HP:0010864	Intellectual disability, severe	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent		184
HP:0012759	HP:0000750	Delayed speech and language development	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0001263	Global developmental delay	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0002187	Intellectual disability, profound	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0012759	HP:0010864	Intellectual disability, severe	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0012759	HP:0001270	Motor delay	2	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.		184
HP:0012759	HP:0001270	Motor delay	2	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.		184
HP:0012759	HP:0001263	Global developmental delay	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0012759	HP:0000750	Delayed speech and language development	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0001256	Intellectual disability, mild	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0012759	HP:0001263	Global developmental delay	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0001263	Global developmental delay	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0000750	Delayed speech and language development	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0012759	HP:0001256	Intellectual disability, mild	2	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.		493
HP:0012759	HP:0001270	Motor delay	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0012759	HP:0001256	Intellectual disability, mild	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent		493
HP:0012759	HP:0001263	Global developmental delay	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0012759	HP:0001256	Intellectual disability, mild	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0012759	HP:0001263	Global developmental delay	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0012759	HP:0001270	Motor delay	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0012759	HP:0001270	Motor delay	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012759	HP:0001270	Motor delay	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0012759	HP:0001263	Global developmental delay	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0012759	HP:0000750	Delayed speech and language development	2	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0012759	HP:0001263	Global developmental delay	2	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	HP:0040282 - Frequent		30
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent		30
HP:0012759	HP:0000750	Delayed speech and language development	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0012759	HP:0001270	Motor delay	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0012759	HP:0002442	Dyscalculia	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0012759	HP:0001256	Intellectual disability, mild	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent		30
HP:0012759	HP:0001263	Global developmental delay	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent		30
HP:0012759	HP:0001263	Global developmental delay	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0001270	Motor delay	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0000750	Delayed speech and language development	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012759	HP:0001263	Global developmental delay	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012759	HP:0001263	Global developmental delay	2	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		9
HP:0012759	HP:0010864	Intellectual disability, severe	2	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012759	HP:0010864	Intellectual disability, severe	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0001263	Global developmental delay	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0001270	Motor delay	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.		177
HP:0012759	HP:0010864	Intellectual disability, severe	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent		184
HP:0012759	HP:0001256	Intellectual disability, mild	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0012759	HP:0001270	Motor delay	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0012759	HP:0010864	Intellectual disability, severe	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0001263	Global developmental delay	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0001270	Motor delay	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040281 - Very frequent		143
HP:0012759	HP:0012434	Delayed social development	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional		143
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.		143
HP:0012759	HP:0001263	Global developmental delay	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012759	HP:0001263	Global developmental delay	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0012759	HP:0001263	Global developmental delay	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0012759	HP:0010864	Intellectual disability, severe	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0012759	HP:0000750	Delayed speech and language development	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012759	HP:0001263	Global developmental delay	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0012759	HP:0000750	Delayed speech and language development	2	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included	HP:0040281 - Very frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0012759	HP:0000750	Delayed speech and language development	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012759	HP:0001263	Global developmental delay	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0001270	Motor delay	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0010522	Dyslexia	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012759	HP:0000750	Delayed speech and language development	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0001263	Global developmental delay	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0001270	Motor delay	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0000750	Delayed speech and language development	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0012759	HP:0001263	Global developmental delay	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0012759	HP:0010864	Intellectual disability, severe	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0012759	HP:0000750	Delayed speech and language development	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0012759	HP:0001263	Global developmental delay	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0012759	HP:0010864	Intellectual disability, severe	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0012759	HP:0001263	Global developmental delay	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0012759	HP:0000750	Delayed speech and language development	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0001263	Global developmental delay	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0001270	Motor delay	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0002342	Intellectual disability, moderate	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0001263	Global developmental delay	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012759	HP:0001263	Global developmental delay	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0012759	HP:0010864	Intellectual disability, severe	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0012759	HP:0002442	Dyscalculia	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0012759	HP:0001263	Global developmental delay	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0012759	HP:0001270	Motor delay	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012759	HP:0001263	Global developmental delay	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0012759	HP:0001263	Global developmental delay	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040282 - Frequent		3
HP:0012759	HP:0001270	Motor delay	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0012759	HP:0001270	Motor delay	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0012759	HP:0001263	Global developmental delay	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001256	Intellectual disability, mild	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0012759	HP:0001263	Global developmental delay	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012759	HP:0001270	Motor delay	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0012759	HP:0000750	Delayed speech and language development	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	HP:0040283 - Occasional		37
HP:0012759	HP:0001270	Motor delay	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0012759	HP:0001256	Intellectual disability, mild	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001263	Global developmental delay	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0012759	HP:0001270	Motor delay	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0012759	HP:0000750	Delayed speech and language development	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0012759	HP:0000750	Delayed speech and language development	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0012759	HP:0010522	Dyslexia	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0012759	HP:0001263	Global developmental delay	2	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.		134
HP:0012759	HP:0001263	Global developmental delay	2	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0001270	Motor delay	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0010864	Intellectual disability, severe	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0012759	HP:0001263	Global developmental delay	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0012759	HP:0001263	Global developmental delay	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0012759	HP:0010522	Dyslexia	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0012759	HP:0001263	Global developmental delay	2	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.		57
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001263	Global developmental delay	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0010522	Dyslexia	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0012759	HP:0001263	Global developmental delay	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0012759	HP:0000750	Delayed speech and language development	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0012759	HP:0001263	Global developmental delay	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0012759	HP:0006889	Intellectual disability, borderline	2	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		139
HP:0012759	HP:0001263	Global developmental delay	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0012759	HP:0002187	Intellectual disability, profound	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0012759	HP:0001263	Global developmental delay	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0012759	HP:0001270	Motor delay	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0012759	HP:0000750	Delayed speech and language development	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0012759	HP:0001263	Global developmental delay	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0012759	HP:0001270	Motor delay	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0012759	HP:0001270	Motor delay	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0012759	HP:0001270	Motor delay	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0012759	HP:0000750	Delayed speech and language development	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0001263	Global developmental delay	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0001270	Motor delay	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0010864	Intellectual disability, severe	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0000750	Delayed speech and language development	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0012759	HP:0001256	Intellectual disability, mild	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0012759	HP:0001263	Global developmental delay	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0012759	HP:0000750	Delayed speech and language development	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0012759	HP:0001263	Global developmental delay	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0012759	HP:0010864	Intellectual disability, severe	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0001263	Global developmental delay	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0012759	HP:0010864	Intellectual disability, severe	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040282 - Frequent		91
HP:0012759	HP:0001270	Motor delay	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0012759	HP:0001270	Motor delay	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0012759	HP:0000750	Delayed speech and language development	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0012759	HP:0001256	Intellectual disability, mild	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040281 - Very frequent		87
HP:0012759	HP:0001263	Global developmental delay	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040281 - Very frequent		87
HP:0012759	HP:0001263	Global developmental delay	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012759	HP:0001263	Global developmental delay	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0012759	HP:0010864	Intellectual disability, severe	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0012759	HP:0001263	Global developmental delay	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0010864	Intellectual disability, severe	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0000750	Delayed speech and language development	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0012759	HP:0001263	Global developmental delay	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0012759	HP:0001263	Global developmental delay	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0012759	HP:0001270	Motor delay	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0012759	HP:0001270	Motor delay	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0012759	HP:0001256	Intellectual disability, mild	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040284 - Very rare		30
HP:0012759	HP:0001270	Motor delay	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012759	HP:0000750	Delayed speech and language development	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012759	HP:0001263	Global developmental delay	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012759	HP:0001263	Global developmental delay	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0012759	HP:0006887	Intellectual disability, progressive	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0012759	HP:0001263	Global developmental delay	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0012759	HP:0001270	Motor delay	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0012759	HP:0010864	Intellectual disability, severe	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		237
HP:0012759	HP:0001263	Global developmental delay	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0012759	HP:0010522	Dyslexia	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0012759	HP:0001270	Motor delay	2	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040283 - Occasional		108
HP:0012759	HP:0001270	Motor delay	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012759	HP:0001270	Motor delay	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012759	HP:0001270	Motor delay	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0012759	HP:0001263	Global developmental delay	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		64
HP:0012759	HP:0001256	Intellectual disability, mild	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0001263	Global developmental delay	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0010864	Intellectual disability, severe	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0012759	HP:0000750	Delayed speech and language development	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012759	HP:0001263	Global developmental delay	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0012759	HP:0001270	Motor delay	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012759	HP:0000750	Delayed speech and language development	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012759	HP:0001263	Global developmental delay	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012759	HP:0001270	Motor delay	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012759	HP:0001263	Global developmental delay	2	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0012759	HP:0001263	Global developmental delay	2	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay			14
HP:0012759	HP:0001270	Motor delay	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0012759	HP:0000750	Delayed speech and language development	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0012759	HP:0001263	Global developmental delay	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012759	HP:0000750	Delayed speech and language development	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0012759	HP:0001263	Global developmental delay	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0012759	HP:0001270	Motor delay	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		128
HP:0012759	HP:0001270	Motor delay	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0012759	HP:0001270	Motor delay	2	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	HP:0040283 - Occasional		128
HP:0012759	HP:0001270	Motor delay	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012759	HP:0001270	Motor delay	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent		98
HP:0012759	HP:0001263	Global developmental delay	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012759	HP:0001263	Global developmental delay	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0012759	HP:0000750	Delayed speech and language development	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0012759	HP:0001263	Global developmental delay	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0012759	HP:0000750	Delayed speech and language development	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0012759	HP:0001263	Global developmental delay	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0012759	HP:0001270	Motor delay	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012759	HP:0001270	Motor delay	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0012759	HP:0001270	Motor delay	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0012759	HP:0001263	Global developmental delay	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0012759	HP:0001270	Motor delay	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0012759	HP:0001263	Global developmental delay	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0012759	HP:0001263	Global developmental delay	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012759	HP:0001263	Global developmental delay	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012759	HP:0033044	Motor regression	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0012759	HP:0001256	Intellectual disability, mild	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0012759	HP:0001270	Motor delay	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0012759	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0012759	HP:0001263	Global developmental delay	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012759	HP:0001263	Global developmental delay	2	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional		173
HP:0012759	HP:0001263	Global developmental delay	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.		173
HP:0012759	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0012759	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0012759	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0012759	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0012759	HP:0010864	Intellectual disability, severe	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		270
HP:0012759	HP:0001256	Intellectual disability, mild	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0001256	Intellectual disability, mild	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional		270
HP:0012759	HP:0001263	Global developmental delay	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012759	HP:0001263	Global developmental delay	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0012759	HP:0001263	Global developmental delay	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0012759	HP:0001263	Global developmental delay	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0012759	HP:0000750	Delayed speech and language development	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0012759	HP:0001256	Intellectual disability, mild	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0012759	HP:0001270	Motor delay	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0012759	HP:0000750	Delayed speech and language development	2	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0012759	HP:0001263	Global developmental delay	2	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0012759	HP:0001270	Motor delay	2	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0012759	HP:0001263	Global developmental delay	2	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012759	HP:0001263	Global developmental delay	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0012759	HP:0002342	Intellectual disability, moderate	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0012759	HP:0001263	Global developmental delay	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012759	HP:0000750	Delayed speech and language development	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0012759	HP:0001263	Global developmental delay	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012759	HP:0001263	Global developmental delay	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0012759	HP:0001263	Global developmental delay	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0000750	Delayed speech and language development	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0012759	HP:0001270	Motor delay	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0012759	HP:0000750	Delayed speech and language development	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0012759	HP:0001263	Global developmental delay	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0012759	HP:0001256	Intellectual disability, mild	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0012759	HP:0001263	Global developmental delay	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0012759	HP:0001270	Motor delay	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0012759	HP:0001270	Motor delay	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040282 - Frequent		34
HP:0012759	HP:0000750	Delayed speech and language development	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0012759	HP:0001263	Global developmental delay	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0012759	HP:0001263	Global developmental delay	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0012759	HP:0001270	Motor delay	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0012759	HP:0001256	Intellectual disability, mild	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0012759	HP:0001270	Motor delay	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0012759	HP:0000750	Delayed speech and language development	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0001263	Global developmental delay	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0001270	Motor delay	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0001263	Global developmental delay	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		36
HP:0012759	HP:0000750	Delayed speech and language development	2	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0012759	HP:0001263	Global developmental delay	2	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.		36
HP:0012759	HP:0000750	Delayed speech and language development	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0012759	HP:0001263	Global developmental delay	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0012759	HP:0000750	Delayed speech and language development	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0012759	HP:0001263	Global developmental delay	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040281 - Very frequent		12
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0001263	Global developmental delay	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0001263	Global developmental delay	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0012759	HP:0001263	Global developmental delay	2	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	.		7
HP:0012759	HP:0001263	Global developmental delay	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	HP:0040283 - Occasional		7
HP:0012759	HP:0001270	Motor delay	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0012759	HP:0000750	Delayed speech and language development	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0012759	HP:0001256	Intellectual disability, mild	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0012759	HP:0001256	Intellectual disability, mild	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0012759	HP:0001263	Global developmental delay	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0012759	HP:0001263	Global developmental delay	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040283 - Occasional		173
HP:0012759	HP:0001263	Global developmental delay	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0012759	HP:0001270	Motor delay	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012759	HP:0000750	Delayed speech and language development	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0012759	HP:0001270	Motor delay	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0012759	HP:0001256	Intellectual disability, mild	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0012759	HP:0000750	Delayed speech and language development	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0012759	HP:0001263	Global developmental delay	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0012759	HP:0001263	Global developmental delay	2	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0012759	HP:0001256	Intellectual disability, mild	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0012759	HP:0001263	Global developmental delay	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0012759	HP:0000750	Delayed speech and language development	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0012759	HP:0000750	Delayed speech and language development	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0010864	Intellectual disability, severe	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0001263	Global developmental delay	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0012759	HP:0001256	Intellectual disability, mild	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0012759	HP:0000750	Delayed speech and language development	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0012759	HP:0001263	Global developmental delay	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0012759	HP:0000750	Delayed speech and language development	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0012759	HP:0000750	Delayed speech and language development	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0012759	HP:0001270	Motor delay	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0012759	HP:0001263	Global developmental delay	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0012759	HP:0001270	Motor delay	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0012759	HP:0001263	Global developmental delay	2	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0012759	HP:0001263	Global developmental delay	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0012759	HP:0001270	Motor delay	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0012759	HP:0000750	Delayed speech and language development	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0012759	HP:0001263	Global developmental delay	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0001263	Global developmental delay	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0001270	Motor delay	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0001270	Motor delay	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0001263	Global developmental delay	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94	.		30
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040281 - Very frequent		30
HP:0012759	HP:0001256	Intellectual disability, mild	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0012759	HP:0001263	Global developmental delay	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040281 - Very frequent		30
HP:0012759	HP:0001270	Motor delay	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0012759	HP:0002342	Intellectual disability, moderate	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040282 - Frequent		30
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0012759	HP:0001263	Global developmental delay	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0012759	HP:0001270	Motor delay	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0012759	HP:0000750	Delayed speech and language development	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0012759	HP:0001263	Global developmental delay	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0012759	HP:0001263	Global developmental delay	2	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.		32
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0001263	Global developmental delay	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0001270	Motor delay	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0001256	Intellectual disability, mild	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0012759	HP:0001263	Global developmental delay	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0012759	HP:0001270	Motor delay	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0012759	HP:0002187	Intellectual disability, profound	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0012759	HP:0002342	Intellectual disability, moderate	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0012759	HP:0001263	Global developmental delay	2	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0012759	HP:0001263	Global developmental delay	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0001263	Global developmental delay	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0012759	HP:0001270	Motor delay	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0012759	HP:0002342	Intellectual disability, moderate	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0012759	HP:0010864	Intellectual disability, severe	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent		434
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0012759	HP:0006889	Intellectual disability, borderline	2	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		434
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		434
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0012759	HP:0001270	Motor delay	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures	.		274
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0012759	HP:0000750	Delayed speech and language development	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0012759	HP:0001270	Motor delay	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0012759	HP:0000750	Delayed speech and language development	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0001263	Global developmental delay	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0001263	Global developmental delay	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012759	HP:0002442	Dyscalculia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0012759	HP:0010522	Dyslexia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0012759	HP:0010522	Dyslexia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0012759	HP:0000750	Delayed speech and language development	2	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0001263	Global developmental delay	2	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0001263	Global developmental delay	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0012759	HP:0001270	Motor delay	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.		2
HP:0012759	HP:0001263	Global developmental delay	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0012759	HP:0001263	Global developmental delay	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012759	HP:0001263	Global developmental delay	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0012759	HP:0001270	Motor delay	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0012759	HP:0001256	Intellectual disability, mild	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0012759	HP:0001263	Global developmental delay	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0012759	HP:0001263	Global developmental delay	2	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	HP:0040282 - Frequent		30
HP:0012759	HP:0001263	Global developmental delay	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		124
HP:0012759	HP:0001263	Global developmental delay	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0012759	HP:0002187	Intellectual disability, profound	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.		2
HP:0012759	HP:0001263	Global developmental delay	2	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional		100
HP:0012759	HP:0001263	Global developmental delay	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		4
HP:0012759	HP:0001270	Motor delay	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0012759	HP:0001270	Motor delay	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0012759	HP:0000750	Delayed speech and language development	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0001263	Global developmental delay	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0001270	Motor delay	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0001263	Global developmental delay	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0012759	HP:0000750	Delayed speech and language development	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0001263	Global developmental delay	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0001263	Global developmental delay	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012759	HP:0000750	Delayed speech and language development	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0001263	Global developmental delay	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0001270	Motor delay	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0001263	Global developmental delay	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0012759	HP:0001263	Global developmental delay	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	HP:0040284 - Very rare		2
HP:0012759	HP:0001270	Motor delay	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0012759	HP:0001270	Motor delay	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0012759	HP:0000750	Delayed speech and language development	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0001263	Global developmental delay	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001270	Motor delay	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		41
HP:0012759	HP:0001263	Global developmental delay	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0012759	HP:0001263	Global developmental delay	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0012759	HP:0001270	Motor delay	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0012759	HP:0001263	Global developmental delay	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0012759	HP:0001270	Motor delay	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0012759	HP:0001263	Global developmental delay	2	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia			73
HP:0012759	HP:0001270	Motor delay	2	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0012759	HP:0001263	Global developmental delay	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0012759	HP:0001263	Global developmental delay	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0001263	Global developmental delay	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0012759	HP:0000750	Delayed speech and language development	2	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0012759	HP:0000750	Delayed speech and language development	2	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0012759	HP:0001263	Global developmental delay	2	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10	HP:0040284 - Very rare		54
HP:0012759	HP:0000750	Delayed speech and language development	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0001263	Global developmental delay	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0000750	Delayed speech and language development	2	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0012759	HP:0001256	Intellectual disability, mild	2	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0012759	HP:0001263	Global developmental delay	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0001263	Global developmental delay	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0001270	Motor delay	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0001256	Intellectual disability, mild	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0001263	Global developmental delay	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0012759	HP:0001263	Global developmental delay	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0001256	Intellectual disability, mild	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0012759	HP:0001263	Global developmental delay	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0001270	Motor delay	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0001263	Global developmental delay	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	HP:0040283 - Occasional		6
HP:0012759	HP:0001270	Motor delay	2	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0012759	HP:0001256	Intellectual disability, mild	2	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		82
HP:0012759	HP:0001270	Motor delay	2	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		82
HP:0012759	HP:0000750	Delayed speech and language development	2	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0012759	HP:0001270	Motor delay	2	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0012759	HP:0001270	Motor delay	2	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.		82
HP:0012759	HP:0001263	Global developmental delay	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012759	HP:0000750	Delayed speech and language development	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0012759	HP:0001263	Global developmental delay	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0012759	HP:0000750	Delayed speech and language development	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012759	HP:0001263	Global developmental delay	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0010864	Intellectual disability, severe	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0000750	Delayed speech and language development	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0001263	Global developmental delay	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0001270	Motor delay	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0000750	Delayed speech and language development	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0001263	Global developmental delay	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0001270	Motor delay	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012759	HP:0001263	Global developmental delay	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012759	HP:0001263	Global developmental delay	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		21
HP:0012759	HP:0001263	Global developmental delay	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0012759	HP:0001263	Global developmental delay	2	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.		21
HP:0012759	HP:0001263	Global developmental delay	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0012759	HP:0001270	Motor delay	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0012759	HP:0001263	Global developmental delay	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0012759	HP:0001270	Motor delay	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent		32
HP:0012759	HP:0000750	Delayed speech and language development	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0012759	HP:0001270	Motor delay	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0012759	HP:0000750	Delayed speech and language development	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0012759	HP:0001263	Global developmental delay	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0012759	HP:0001256	Intellectual disability, mild	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare		12
HP:0012759	HP:0001256	Intellectual disability, mild	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0001263	Global developmental delay	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0012759	HP:0001270	Motor delay	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0000750	Delayed speech and language development	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0001263	Global developmental delay	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0001270	Motor delay	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0001263	Global developmental delay	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0012759	HP:0000750	Delayed speech and language development	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0012759	HP:0001270	Motor delay	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012759	HP:0002342	Intellectual disability, moderate	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012759	HP:0010864	Intellectual disability, severe	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012759	HP:0001263	Global developmental delay	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	HP:0040284 - Very rare		35
HP:0012759	HP:0001263	Global developmental delay	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0012759	HP:0001263	Global developmental delay	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0012759	HP:0000750	Delayed speech and language development	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0012759	HP:0001263	Global developmental delay	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0012759	HP:0001270	Motor delay	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	HP:0040283 - Occasional		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	.		3
HP:0012759	HP:0002442	Dyscalculia	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0012759	HP:0002442	Dyscalculia	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0012759	HP:0000750	Delayed speech and language development	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0010864	Intellectual disability, severe	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0000750	Delayed speech and language development	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0012759	HP:0001270	Motor delay	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012759	HP:0002342	Intellectual disability, moderate	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0012759	HP:0001270	Motor delay	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012759	HP:0002342	Intellectual disability, moderate	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0012759	HP:0000750	Delayed speech and language development	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0012759	HP:0010864	Intellectual disability, severe	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0012759	HP:0000750	Delayed speech and language development	2	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0012759	HP:0001263	Global developmental delay	2	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0012759	HP:0001270	Motor delay	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0012759	HP:0000750	Delayed speech and language development	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0012759	HP:0000750	Delayed speech and language development	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.		23
HP:0012759	HP:0001270	Motor delay	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012759	HP:0001263	Global developmental delay	2	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional		76
HP:0012759	HP:0001256	Intellectual disability, mild	2	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent		76
HP:0012759	HP:0001263	Global developmental delay	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0012759	HP:0001270	Motor delay	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0012759	HP:0002342	Intellectual disability, moderate	2	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent		76
HP:0012759	HP:0001263	Global developmental delay	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	HP:0040284 - Very rare		45
HP:0012759	HP:0001263	Global developmental delay	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0012759	HP:0000750	Delayed speech and language development	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0001263	Global developmental delay	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0001270	Motor delay	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012759	HP:0000750	Delayed speech and language development	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0012759	HP:0001263	Global developmental delay	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0012759	HP:0001270	Motor delay	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012759	HP:0010864	Intellectual disability, severe	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0012759	HP:0001263	Global developmental delay	2	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012759	HP:0000750	Delayed speech and language development	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012759	HP:0001263	Global developmental delay	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012759	HP:0033044	Motor regression	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012759	HP:0001263	Global developmental delay	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012759	HP:0001256	Intellectual disability, mild	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0012759	HP:0001270	Motor delay	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional		98
HP:0012759	HP:0001263	Global developmental delay	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012759	HP:0001263	Global developmental delay	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0012759	HP:0001263	Global developmental delay	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0012759	HP:0002187	Intellectual disability, profound	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0012759	HP:0000750	Delayed speech and language development	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0012759	HP:0001263	Global developmental delay	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0012759	HP:0000750	Delayed speech and language development	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0012759	HP:0001263	Global developmental delay	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0012759	HP:0010864	Intellectual disability, severe	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0001263	Global developmental delay	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0001270	Motor delay	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0001263	Global developmental delay	2	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002342	Intellectual disability, moderate	2	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012759	HP:0001270	Motor delay	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012759	HP:0000750	Delayed speech and language development	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0012759	HP:0001263	Global developmental delay	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0012759	HP:0000750	Delayed speech and language development	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012759	HP:0001263	Global developmental delay	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012759	HP:0001263	Global developmental delay	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0012759	HP:0001270	Motor delay	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0012759	HP:0001263	Global developmental delay	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0012759	HP:0001270	Motor delay	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0012759	HP:0001263	Global developmental delay	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012759	HP:0001270	Motor delay	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012759	HP:0001263	Global developmental delay	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2	.		29
HP:0012759	HP:0001263	Global developmental delay	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040284 - Very rare		86
HP:0012759	HP:0001263	Global developmental delay	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0012759	HP:0002187	Intellectual disability, profound	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0012759	HP:0001263	Global developmental delay	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0012759	HP:0001263	Global developmental delay	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0012759	HP:0001263	Global developmental delay	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0012759	HP:0002187	Intellectual disability, profound	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0012759	HP:0001263	Global developmental delay	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0002187	Intellectual disability, profound	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0000750	Delayed speech and language development	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012759	HP:0001263	Global developmental delay	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0012759	HP:0001263	Global developmental delay	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		148
HP:0012759	HP:0001263	Global developmental delay	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	HP:0040284 - Very rare		148
HP:0012759	HP:0001256	Intellectual disability, mild	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0001263	Global developmental delay	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0001270	Motor delay	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0000750	Delayed speech and language development	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0001263	Global developmental delay	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0006889	Intellectual disability, borderline	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0012759	HP:0001270	Motor delay	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0012759	HP:0001263	Global developmental delay	2	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0012759	HP:0001270	Motor delay	2	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0012759	HP:0001256	Intellectual disability, mild	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0012759	HP:0001270	Motor delay	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0012759	HP:0001270	Motor delay	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0012759	HP:0001270	Motor delay	2	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent		268
HP:0012759	HP:0000750	Delayed speech and language development	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0012759	HP:0001263	Global developmental delay	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0012759	HP:0001270	Motor delay	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0012759	HP:0001270	Motor delay	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0012759	HP:0001256	Intellectual disability, mild	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0012759	HP:0001270	Motor delay	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0012759	HP:0000750	Delayed speech and language development	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0012759	HP:0001270	Motor delay	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0012759	HP:0001270	Motor delay	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		9
HP:0012759	HP:0001263	Global developmental delay	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0012759	HP:0002342	Intellectual disability, moderate	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0012759	HP:0001270	Motor delay	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012759	HP:0001270	Motor delay	2	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0012759	HP:0001270	Motor delay	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0012759	HP:0001263	Global developmental delay	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		52
HP:0012759	HP:0001263	Global developmental delay	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0012759	HP:0000750	Delayed speech and language development	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0001263	Global developmental delay	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0001270	Motor delay	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0002342	Intellectual disability, moderate	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0012759	HP:0001263	Global developmental delay	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0012759	HP:0000750	Delayed speech and language development	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0012759	HP:0002342	Intellectual disability, moderate	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0012759	HP:0000750	Delayed speech and language development	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0012759	HP:0001256	Intellectual disability, mild	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0012759	HP:0002342	Intellectual disability, moderate	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0012759	HP:0010864	Intellectual disability, severe	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0012759	HP:0001263	Global developmental delay	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0012759	HP:0001270	Motor delay	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0012759	HP:0001270	Motor delay	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0012759	HP:0001263	Global developmental delay	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0012759	HP:0001270	Motor delay	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0012759	HP:0010864	Intellectual disability, severe	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		62
HP:0012759	HP:0001263	Global developmental delay	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012759	HP:0001263	Global developmental delay	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012759	HP:0001263	Global developmental delay	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012759	HP:0000750	Delayed speech and language development	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0001263	Global developmental delay	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0000750	Delayed speech and language development	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0012759	HP:0001263	Global developmental delay	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0012759	HP:0000750	Delayed speech and language development	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012759	HP:0001263	Global developmental delay	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0012759	HP:0001263	Global developmental delay	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0001270	Motor delay	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		61
HP:0012759	HP:0001263	Global developmental delay	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012759	HP:0000750	Delayed speech and language development	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0001263	Global developmental delay	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0001270	Motor delay	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0010864	Intellectual disability, severe	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0000750	Delayed speech and language development	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0012759	HP:0000750	Delayed speech and language development	2	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0000750	Delayed speech and language development	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0012759	HP:0001263	Global developmental delay	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent		119
HP:0012759	HP:0010864	Intellectual disability, severe	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent		119
HP:0012759	HP:0000750	Delayed speech and language development	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0001263	Global developmental delay	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0012759	HP:0000750	Delayed speech and language development	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0012759	HP:0001263	Global developmental delay	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0012759	HP:0000750	Delayed speech and language development	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0012759	HP:0001263	Global developmental delay	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0012759	HP:0000750	Delayed speech and language development	2	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0012759	HP:0001263	Global developmental delay	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0012759	HP:0001263	Global developmental delay	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012759	HP:0001270	Motor delay	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012759	HP:0001263	Global developmental delay	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0012759	HP:0001263	Global developmental delay	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0012759	HP:0001270	Motor delay	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0012759	HP:0001270	Motor delay	2	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.		127
HP:0012759	HP:0001263	Global developmental delay	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0012759	HP:0001263	Global developmental delay	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012759	HP:0001263	Global developmental delay	2	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		177
HP:0012759	HP:0001270	Motor delay	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0012759	HP:0000750	Delayed speech and language development	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0001256	Intellectual disability, mild	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0001263	Global developmental delay	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0001270	Motor delay	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.		177
HP:0012759	HP:0000750	Delayed speech and language development	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent		177
HP:0012759	HP:0001263	Global developmental delay	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040283 - Occasional		177
HP:0012759	HP:0001270	Motor delay	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0012759	HP:0012434	Delayed social development	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0012759	HP:0001263	Global developmental delay	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0012759	HP:0001263	Global developmental delay	2	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia	HP:0040281 - Very frequent		105
HP:0012759	HP:0000750	Delayed speech and language development	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0001256	Intellectual disability, mild	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	HP:0040283 - Occasional		257
HP:0012759	HP:0001263	Global developmental delay	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0001270	Motor delay	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012759	HP:0000750	Delayed speech and language development	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0012759	HP:0001263	Global developmental delay	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.		4
HP:0012759	HP:0001256	Intellectual disability, mild	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0010522	Dyslexia	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent		283
HP:0012759	HP:0001256	Intellectual disability, mild	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0012759	HP:0001263	Global developmental delay	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent		283
HP:0012759	HP:0002342	Intellectual disability, moderate	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0012759	HP:0010864	Intellectual disability, severe	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0012759	HP:0000750	Delayed speech and language development	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0012759	HP:0001263	Global developmental delay	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0012759	HP:0000750	Delayed speech and language development	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent		283
HP:0012759	HP:0001256	Intellectual disability, mild	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0012759	HP:0001263	Global developmental delay	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent		283
HP:0012759	HP:0002342	Intellectual disability, moderate	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0012759	HP:0010864	Intellectual disability, severe	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0012759	HP:0001263	Global developmental delay	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0012759	HP:0001270	Motor delay	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012759	HP:0000750	Delayed speech and language development	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0001263	Global developmental delay	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0001270	Motor delay	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0001263	Global developmental delay	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0012759	HP:0000750	Delayed speech and language development	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0001263	Global developmental delay	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0001270	Motor delay	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0001263	Global developmental delay	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0012759	HP:0000750	Delayed speech and language development	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0012759	HP:0001263	Global developmental delay	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0012759	HP:0001263	Global developmental delay	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0012759	HP:0006887	Intellectual disability, progressive	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0012759	HP:0001270	Motor delay	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0012759	HP:0010864	Intellectual disability, severe	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0012759	HP:0000750	Delayed speech and language development	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0001263	Global developmental delay	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0001270	Motor delay	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0001263	Global developmental delay	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0012759	HP:0001270	Motor delay	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0012759	HP:0001263	Global developmental delay	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0012759	HP:0001263	Global developmental delay	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0012759	HP:0001270	Motor delay	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0012759	HP:0001263	Global developmental delay	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		145
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0012759	HP:0001270	Motor delay	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional		145
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0012759	HP:0001263	Global developmental delay	2	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0012759	HP:0001270	Motor delay	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0012759	HP:0001263	Global developmental delay	2	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0001263	Global developmental delay	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0001270	Motor delay	2	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0012759	HP:0001256	Intellectual disability, mild	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0012759	HP:0001263	Global developmental delay	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0012759	HP:0001270	Motor delay	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0012759	HP:0001263	Global developmental delay	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0012759	HP:0001263	Global developmental delay	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0012759	HP:0006887	Intellectual disability, progressive	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional		13
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional		13
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012759	HP:0001270	Motor delay	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		42
HP:0012759	HP:0001263	Global developmental delay	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0012759	HP:0002187	Intellectual disability, profound	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0012759	HP:0001256	Intellectual disability, mild	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0001263	Global developmental delay	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0001270	Motor delay	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0012759	HP:0001263	Global developmental delay	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0012759	HP:0001263	Global developmental delay	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.		114
HP:0012759	HP:0001263	Global developmental delay	2	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0012759	HP:0001263	Global developmental delay	2	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0012759	HP:0006889	Intellectual disability, borderline	2	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0012759	HP:0001263	Global developmental delay	2	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	HP:0040284 - Very rare		114
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0001263	Global developmental delay	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0001270	Motor delay	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012759	HP:0001263	Global developmental delay	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0012759	HP:0001256	Intellectual disability, mild	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.		528
HP:0012759	HP:0001263	Global developmental delay	2	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040281 - Very frequent		528
HP:0012759	HP:0001263	Global developmental delay	2	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	HP:0040283 - Occasional		528
HP:0012759	HP:0001270	Motor delay	2	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	HP:0040283 - Occasional		528
HP:0012759	HP:0000750	Delayed speech and language development	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0012759	HP:0001263	Global developmental delay	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		321
HP:0012759	HP:0001263	Global developmental delay	2	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0001270	Motor delay	2	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012759	HP:0001263	Global developmental delay	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012759	HP:0001270	Motor delay	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0001270	Motor delay	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0001270	Motor delay	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0001263	Global developmental delay	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0001270	Motor delay	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0012759	HP:0001263	Global developmental delay	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0012759	HP:0001270	Motor delay	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0001263	Global developmental delay	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0001270	Motor delay	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0010864	Intellectual disability, severe	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0012759	HP:0000750	Delayed speech and language development	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent		81
HP:0012759	HP:0010864	Intellectual disability, severe	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent		81
HP:0012759	HP:0001256	Intellectual disability, mild	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0012759	HP:0001263	Global developmental delay	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0012759	HP:0001263	Global developmental delay	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012759	HP:0001263	Global developmental delay	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0012759	HP:0001263	Global developmental delay	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0001263	Global developmental delay	2	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.		24
HP:0012759	HP:0000750	Delayed speech and language development	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0012759	HP:0001263	Global developmental delay	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0012759	HP:0001263	Global developmental delay	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0012759	HP:0001263	Global developmental delay	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0012759	HP:0001270	Motor delay	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0012759	HP:0000750	Delayed speech and language development	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0001263	Global developmental delay	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0001270	Motor delay	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0001270	Motor delay	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0012759	HP:0001263	Global developmental delay	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0012759	HP:0001263	Global developmental delay	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0012759	HP:0010864	Intellectual disability, severe	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0012759	HP:0001270	Motor delay	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0012759	HP:0000750	Delayed speech and language development	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0012759	HP:0001263	Global developmental delay	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0012759	HP:0001263	Global developmental delay	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0012759	HP:0001263	Global developmental delay	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	HP:0040283 - Occasional		276
HP:0012759	HP:0001263	Global developmental delay	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0012759	HP:0010864	Intellectual disability, severe	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0012759	HP:0001256	Intellectual disability, mild	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional		38
HP:0012759	HP:0001263	Global developmental delay	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional		38
HP:0012759	HP:0001263	Global developmental delay	2	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.		15
HP:0012759	HP:0000750	Delayed speech and language development	2	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0012759	HP:0002342	Intellectual disability, moderate	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040283 - Occasional		93
HP:0012759	HP:0000750	Delayed speech and language development	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0001263	Global developmental delay	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0010864	Intellectual disability, severe	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0010864	Intellectual disability, severe	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		167
HP:0012759	HP:0010864	Intellectual disability, severe	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0012759	HP:0001263	Global developmental delay	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012759	HP:0001270	Motor delay	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0012759	HP:0001263	Global developmental delay	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0012759	HP:0001263	Global developmental delay	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0012759	HP:0001270	Motor delay	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0012759	HP:0001270	Motor delay	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0002342	Intellectual disability, moderate	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0010864	Intellectual disability, severe	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0001263	Global developmental delay	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0001270	Motor delay	2	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0001270	Motor delay	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0012759	HP:0001270	Motor delay	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0001270	Motor delay	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0001270	Motor delay	2	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	.		13
HP:0012759	HP:0001270	Motor delay	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040281 - Very frequent		91
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0012759	HP:0001263	Global developmental delay	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0012759	HP:0001270	Motor delay	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0012759	HP:0001263	Global developmental delay	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0010864	Intellectual disability, severe	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0012759	HP:0001256	Intellectual disability, mild	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0012759	HP:0001263	Global developmental delay	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0012759	HP:0001270	Motor delay	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0012759	HP:0001263	Global developmental delay	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0012759	HP:0001263	Global developmental delay	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040281 - Very frequent		99
HP:0012759	HP:0001270	Motor delay	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0012759	HP:0001256	Intellectual disability, mild	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0012759	HP:0001263	Global developmental delay	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0012759	HP:0001263	Global developmental delay	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0012759	HP:0001270	Motor delay	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0012759	HP:0000750	Delayed speech and language development	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0012759	HP:0001263	Global developmental delay	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0012759	HP:0001263	Global developmental delay	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0012759	HP:0010864	Intellectual disability, severe	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0012759	HP:0000750	Delayed speech and language development	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0012759	HP:0001263	Global developmental delay	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001270	Motor delay	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012759	HP:0000750	Delayed speech and language development	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0012759	HP:0001263	Global developmental delay	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.		13
HP:0012759	HP:0001270	Motor delay	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0012759	HP:0001263	Global developmental delay	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0012759	HP:0001263	Global developmental delay	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0012759	HP:0001263	Global developmental delay	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0012759	HP:0001263	Global developmental delay	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0012759	HP:0001263	Global developmental delay	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional		196
HP:0012759	HP:0001263	Global developmental delay	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0012759	HP:0001263	Global developmental delay	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0012759	HP:0001263	Global developmental delay	2	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D			173
HP:0012759	HP:0001270	Motor delay	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0012759	HP:0001263	Global developmental delay	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0012759	HP:0001263	Global developmental delay	2	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	HP:0040284 - Very rare		5
HP:0012759	HP:0010864	Intellectual disability, severe	2	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040281 - Very frequent		134
HP:0012759	HP:0000750	Delayed speech and language development	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0012759	HP:0001256	Intellectual disability, mild	2	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040282 - Frequent		134
HP:0012759	HP:0002342	Intellectual disability, moderate	2	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040282 - Frequent		134
HP:0012759	HP:0006887	Intellectual disability, progressive	2	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040281 - Very frequent		34
HP:0012759	HP:0006887	Intellectual disability, progressive	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040281 - Very frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0012759	HP:0001263	Global developmental delay	2	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0012759	HP:0001263	Global developmental delay	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0012759	HP:0000750	Delayed speech and language development	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040284 - Very rare		35
HP:0012759	HP:0001263	Global developmental delay	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0012759	HP:0002342	Intellectual disability, moderate	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent		35
HP:0012759	HP:0000750	Delayed speech and language development	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0012759	HP:0001270	Motor delay	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0012759	HP:0001270	Motor delay	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0012759	HP:0001270	Motor delay	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0012759	HP:0001270	Motor delay	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0012759	HP:0001263	Global developmental delay	2	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement			71
HP:0012759	HP:0001263	Global developmental delay	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0012759	HP:0001270	Motor delay	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0012759	HP:0001263	Global developmental delay	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012759	HP:0001270	Motor delay	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012759	HP:0001263	Global developmental delay	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	HP:0040283 - Occasional		114
HP:0012759	HP:0001263	Global developmental delay	2	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0012759	HP:0001263	Global developmental delay	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0012759	HP:0001270	Motor delay	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0012759	HP:0010864	Intellectual disability, severe	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0012759	HP:0000750	Delayed speech and language development	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0001263	Global developmental delay	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0002187	Intellectual disability, profound	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0012759	HP:0010864	Intellectual disability, severe	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0012759	HP:0001263	Global developmental delay	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0012759	HP:0001270	Motor delay	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0012759	HP:0002187	Intellectual disability, profound	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0012759	HP:0001263	Global developmental delay	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0012759	HP:0001263	Global developmental delay	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0012759	HP:0010864	Intellectual disability, severe	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0012759	HP:0010864	Intellectual disability, severe	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012759	HP:0001270	Motor delay	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012759	HP:0001270	Motor delay	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0012759	HP:0001263	Global developmental delay	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0000750	Delayed speech and language development	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0001263	Global developmental delay	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0001263	Global developmental delay	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly	.		70
HP:0012759	HP:0001270	Motor delay	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0012759	HP:0001263	Global developmental delay	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		70
HP:0012759	HP:0001263	Global developmental delay	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0012759	HP:0012434	Delayed social development	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0012759	HP:0000750	Delayed speech and language development	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0001256	Intellectual disability, mild	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0001263	Global developmental delay	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0001263	Global developmental delay	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012759	HP:0001263	Global developmental delay	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0012759	HP:0001263	Global developmental delay	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012759	HP:0001263	Global developmental delay	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		43
HP:0012759	HP:0001263	Global developmental delay	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012759	HP:0001270	Motor delay	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0012759	HP:0001270	Motor delay	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0012759	HP:0000750	Delayed speech and language development	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0012759	HP:0001263	Global developmental delay	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0012759	HP:0001263	Global developmental delay	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		88
HP:0012759	HP:0000750	Delayed speech and language development	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0012759	HP:0001263	Global developmental delay	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0012759	HP:0001270	Motor delay	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0012759	HP:0010864	Intellectual disability, severe	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0012759	HP:0000750	Delayed speech and language development	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0001263	Global developmental delay	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	.		25
HP:0012759	HP:0001270	Motor delay	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0001263	Global developmental delay	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0012759	HP:0010864	Intellectual disability, severe	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.		21
HP:0012759	HP:0000750	Delayed speech and language development	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012759	HP:0001263	Global developmental delay	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012759	HP:0000750	Delayed speech and language development	2	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0001263	Global developmental delay	2	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0001263	Global developmental delay	2	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52	.		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0012759	HP:0001263	Global developmental delay	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0012759	HP:0000750	Delayed speech and language development	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0012759	HP:0001263	Global developmental delay	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0012759	HP:0001270	Motor delay	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0012759	HP:0001263	Global developmental delay	2	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent		645
HP:0012759	HP:0001270	Motor delay	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0012759	HP:0000750	Delayed speech and language development	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0001263	Global developmental delay	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0001270	Motor delay	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0001263	Global developmental delay	2	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.		11
HP:0012759	HP:0000750	Delayed speech and language development	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0001263	Global developmental delay	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0001270	Motor delay	2	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0001270	Motor delay	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0012759	HP:0000750	Delayed speech and language development	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0012759	HP:0001270	Motor delay	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0012759	HP:0010864	Intellectual disability, severe	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		165
HP:0012759	HP:0000750	Delayed speech and language development	2	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0012759	HP:0001263	Global developmental delay	2	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0012759	HP:0001263	Global developmental delay	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0012759	HP:0001263	Global developmental delay	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001270	Motor delay	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0012759	HP:0002187	Intellectual disability, profound	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		62
HP:0012759	HP:0001263	Global developmental delay	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0012759	HP:0012434	Delayed social development	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0012759	HP:0001263	Global developmental delay	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0012759	HP:0001263	Global developmental delay	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0012759	HP:0001270	Motor delay	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0012759	HP:0001270	Motor delay	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0012759	HP:0001256	Intellectual disability, mild	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0012759	HP:0001263	Global developmental delay	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012759	HP:0001270	Motor delay	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0012759	HP:0000750	Delayed speech and language development	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0012759	HP:0001256	Intellectual disability, mild	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0012759	HP:0001263	Global developmental delay	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0012759	HP:0001270	Motor delay	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0012759	HP:0001263	Global developmental delay	2	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0012759	HP:0001263	Global developmental delay	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0012759	HP:0000750	Delayed speech and language development	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012759	HP:0001263	Global developmental delay	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012759	HP:0000750	Delayed speech and language development	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0001263	Global developmental delay	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0001270	Motor delay	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0000750	Delayed speech and language development	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	.		1
HP:0012759	HP:0001263	Global developmental delay	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002187	Intellectual disability, profound	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0012759	HP:0000750	Delayed speech and language development	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0001270	Motor delay	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0001270	Motor delay	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0012759	HP:0000750	Delayed speech and language development	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0012759	HP:0001270	Motor delay	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0012759	HP:0000750	Delayed speech and language development	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012759	HP:0001263	Global developmental delay	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0012759	HP:0001263	Global developmental delay	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012759	HP:0001263	Global developmental delay	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012759	HP:0001263	Global developmental delay	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0000750	Delayed speech and language development	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0001263	Global developmental delay	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0012759	HP:0001270	Motor delay	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0010864	Intellectual disability, severe	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0010864	Intellectual disability, severe	2	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0001263	Global developmental delay	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0001270	Motor delay	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0000750	Delayed speech and language development	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0001263	Global developmental delay	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0001270	Motor delay	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0001263	Global developmental delay	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0012759	HP:0001263	Global developmental delay	2	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0012759	HP:0001270	Motor delay	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0012759	HP:0006889	Intellectual disability, borderline	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0012759	HP:0000750	Delayed speech and language development	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0001270	Motor delay	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		63
HP:0012759	HP:0006889	Intellectual disability, borderline	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0012759	HP:0006889	Intellectual disability, borderline	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0012759	HP:0006889	Intellectual disability, borderline	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0012759	HP:0000750	Delayed speech and language development	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0012759	HP:0001263	Global developmental delay	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0012759	HP:0001270	Motor delay	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0012759	HP:0001263	Global developmental delay	2	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0012759	HP:0001263	Global developmental delay	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040281 - Very frequent		93
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0012759	HP:0010864	Intellectual disability, severe	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0012759	HP:0001263	Global developmental delay	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0001270	Motor delay	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0012759	HP:0001263	Global developmental delay	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0012759	HP:0000750	Delayed speech and language development	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040281 - Very frequent		136
HP:0012759	HP:0000750	Delayed speech and language development	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0012759	HP:0001270	Motor delay	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0012759	HP:0000750	Delayed speech and language development	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012759	HP:0001270	Motor delay	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012759	HP:0001270	Motor delay	2	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0012759	HP:0000750	Delayed speech and language development	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0001263	Global developmental delay	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0002442	Dyscalculia	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0010522	Dyslexia	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0001263	Global developmental delay	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0012759	HP:0001263	Global developmental delay	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012759	HP:0001263	Global developmental delay	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0012759	HP:0001263	Global developmental delay	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0012759	HP:0001270	Motor delay	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001270	Motor delay	2	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0012759	HP:0001263	Global developmental delay	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012759	HP:0001263	Global developmental delay	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012759	HP:0001263	Global developmental delay	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0012759	HP:0001270	Motor delay	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012759	HP:0001263	Global developmental delay	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0012759	HP:0001263	Global developmental delay	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0012759	HP:0000750	Delayed speech and language development	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0012759	HP:0001270	Motor delay	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0012759	HP:0002442	Dyscalculia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0012759	HP:0010522	Dyslexia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0012759	HP:0010522	Dyslexia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0012759	HP:0001256	Intellectual disability, mild	2	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012759	HP:0001263	Global developmental delay	2	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0012759	HP:0001256	Intellectual disability, mild	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0012759	HP:0001263	Global developmental delay	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.		25
HP:0012759	HP:0001256	Intellectual disability, mild	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0012759	HP:0001263	Global developmental delay	2	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040281 - Very frequent		252
HP:0012759	HP:0010864	Intellectual disability, severe	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040281 - Very frequent		252
HP:0012759	HP:0001263	Global developmental delay	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0001270	Motor delay	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0012759	HP:0010864	Intellectual disability, severe	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0000750	Delayed speech and language development	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0012759	HP:0001263	Global developmental delay	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0012759	HP:0001270	Motor delay	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0012759	HP:0001263	Global developmental delay	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0012759	HP:0010864	Intellectual disability, severe	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0012759	HP:0001263	Global developmental delay	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0012759	HP:0001263	Global developmental delay	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0012759	HP:0001263	Global developmental delay	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0012759	HP:0001270	Motor delay	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012759	HP:0000750	Delayed speech and language development	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0012759	HP:0000750	Delayed speech and language development	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0012759	HP:0001256	Intellectual disability, mild	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0001270	Motor delay	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0012759	HP:0001263	Global developmental delay	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0012759	HP:0001263	Global developmental delay	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012759	HP:0001263	Global developmental delay	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012759	HP:0000750	Delayed speech and language development	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0012759	HP:0001263	Global developmental delay	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0012759	HP:0010864	Intellectual disability, severe	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0012759	HP:0000750	Delayed speech and language development	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012759	HP:0000750	Delayed speech and language development	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0001263	Global developmental delay	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0012759	HP:0001270	Motor delay	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0012759	HP:0001270	Motor delay	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0012759	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.		950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0012759	HP:0006887	Intellectual disability, progressive	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0012759	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0012759	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0001270	Motor delay	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001256	Intellectual disability, mild	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001270	Motor delay	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012759	HP:0001263	Global developmental delay	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0002187	Intellectual disability, profound	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent		950
HP:0012759	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent		950
HP:0012759	HP:0001270	Motor delay	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	HP:0040283 - Occasional		6
HP:0012759	HP:0001270	Motor delay	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0012759	HP:0000750	Delayed speech and language development	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0012759	HP:0001263	Global developmental delay	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0012759	HP:0000750	Delayed speech and language development	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0012759	HP:0001263	Global developmental delay	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0012759	HP:0001263	Global developmental delay	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0012759	HP:0001270	Motor delay	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0012759	HP:0000750	Delayed speech and language development	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012759	HP:0001270	Motor delay	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012759	HP:0000750	Delayed speech and language development	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0001263	Global developmental delay	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0001270	Motor delay	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0000750	Delayed speech and language development	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040281 - Very frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040281 - Very frequent		74
HP:0012759	HP:0001270	Motor delay	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040281 - Very frequent		74
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0001270	Motor delay	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0012759	HP:0001263	Global developmental delay	2	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0012759	HP:0000750	Delayed speech and language development	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0012759	HP:0002187	Intellectual disability, profound	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0012759	HP:0000750	Delayed speech and language development	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0001263	Global developmental delay	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0012759	HP:0001263	Global developmental delay	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0012759	HP:0002342	Intellectual disability, moderate	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0012759	HP:0000750	Delayed speech and language development	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0001263	Global developmental delay	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0001270	Motor delay	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012759	HP:0000750	Delayed speech and language development	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040281 - Very frequent		132
HP:0012759	HP:0010864	Intellectual disability, severe	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040281 - Very frequent		132
HP:0012759	HP:0000750	Delayed speech and language development	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0001270	Motor delay	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.		132
HP:0012759	HP:0010864	Intellectual disability, severe	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.		132
HP:0012759	HP:0001256	Intellectual disability, mild	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0012759	HP:0001263	Global developmental delay	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0012759	HP:0001270	Motor delay	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0012759	HP:0001270	Motor delay	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0012759	HP:0001263	Global developmental delay	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0012759	HP:0001270	Motor delay	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0012759	HP:0000750	Delayed speech and language development	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0001263	Global developmental delay	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0001270	Motor delay	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0001256	Intellectual disability, mild	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0012759	HP:0001263	Global developmental delay	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.		13
HP:0012759	HP:0001263	Global developmental delay	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012759	HP:0010864	Intellectual disability, severe	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012759	HP:0000750	Delayed speech and language development	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0012759	HP:0001263	Global developmental delay	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0012759	HP:0001270	Motor delay	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0012759	HP:0001263	Global developmental delay	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0012759	HP:0001270	Motor delay	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0012759	HP:0001270	Motor delay	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0012759	HP:0001263	Global developmental delay	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0012759	HP:0010864	Intellectual disability, severe	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0012759	HP:0001263	Global developmental delay	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0012759	HP:0010864	Intellectual disability, severe	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0012759	HP:0000750	Delayed speech and language development	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0012759	HP:0001263	Global developmental delay	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0012759	HP:0006887	Intellectual disability, progressive	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0012759	HP:0010864	Intellectual disability, severe	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0012759	HP:0001263	Global developmental delay	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040281 - Very frequent		39
HP:0012759	HP:0001256	Intellectual disability, mild	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0001256	Intellectual disability, mild	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0012759	HP:0001263	Global developmental delay	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0012759	HP:0001256	Intellectual disability, mild	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012759	HP:0001263	Global developmental delay	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012759	HP:0001270	Motor delay	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012759	HP:0000750	Delayed speech and language development	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0012759	HP:0001263	Global developmental delay	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0012759	HP:0001270	Motor delay	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	.		14
HP:0012759	HP:0001263	Global developmental delay	2	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent		14
HP:0012759	HP:0001270	Motor delay	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0012759	HP:0001256	Intellectual disability, mild	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0012759	HP:0001263	Global developmental delay	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0012759	HP:0001263	Global developmental delay	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0012759	HP:0001263	Global developmental delay	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0001270	Motor delay	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0001263	Global developmental delay	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0012759	HP:0001263	Global developmental delay	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0012759	HP:0000750	Delayed speech and language development	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0001263	Global developmental delay	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0001270	Motor delay	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012759	HP:0000750	Delayed speech and language development	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0012759	HP:0001263	Global developmental delay	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0012759	HP:0000750	Delayed speech and language development	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0012759	HP:0001263	Global developmental delay	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0012759	HP:0001263	Global developmental delay	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0012759	HP:0000750	Delayed speech and language development	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0001263	Global developmental delay	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0001270	Motor delay	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0001256	Intellectual disability, mild	2	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		112
HP:0012759	HP:0001270	Motor delay	2	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		112
HP:0012759	HP:0001270	Motor delay	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012759	HP:0001263	Global developmental delay	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0012759	HP:0001263	Global developmental delay	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0012759	HP:0001263	Global developmental delay	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0012759	HP:0001263	Global developmental delay	2	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent		50
HP:0012759	HP:0001263	Global developmental delay	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0012759	HP:0001270	Motor delay	2	MMP13 CL E G H	4322	7159	OMIM:250400	Metaphyseal chondrodysplasia, Spahr type	.		52
HP:0012759	HP:0000750	Delayed speech and language development	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012759	HP:0001263	Global developmental delay	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0001263	Global developmental delay	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0001270	Motor delay	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0001263	Global developmental delay	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.		17
HP:0012759	HP:0001263	Global developmental delay	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0012759	HP:0001263	Global developmental delay	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0012759	HP:0001263	Global developmental delay	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0012759	HP:0001263	Global developmental delay	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional		8
HP:0012759	HP:0001270	Motor delay	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional		8
HP:0012759	HP:0000750	Delayed speech and language development	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0001270	Motor delay	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0001263	Global developmental delay	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0012759	HP:0000750	Delayed speech and language development	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0012759	HP:0001263	Global developmental delay	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0012759	HP:0010864	Intellectual disability, severe	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0012759	HP:0001270	Motor delay	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0012759	HP:0001263	Global developmental delay	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0012759	HP:0001263	Global developmental delay	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0012759	HP:0001263	Global developmental delay	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0012759	HP:0001270	Motor delay	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012759	HP:0001270	Motor delay	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040283 - Occasional		134
HP:0012759	HP:0001270	Motor delay	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0012759	HP:0001270	Motor delay	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0012759	HP:0001270	Motor delay	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0012759	HP:0000750	Delayed speech and language development	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0001263	Global developmental delay	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0001270	Motor delay	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0000750	Delayed speech and language development	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0012759	HP:0001263	Global developmental delay	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012759	HP:0000750	Delayed speech and language development	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012759	HP:0001263	Global developmental delay	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012759	HP:0001263	Global developmental delay	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012759	HP:0000750	Delayed speech and language development	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012759	HP:0001263	Global developmental delay	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012759	HP:0001270	Motor delay	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012759	HP:0001263	Global developmental delay	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0012759	HP:0001263	Global developmental delay	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012759	HP:0001263	Global developmental delay	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0001270	Motor delay	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0000750	Delayed speech and language development	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012759	HP:0001263	Global developmental delay	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0001263	Global developmental delay	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0001270	Motor delay	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0001256	Intellectual disability, mild	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0012759	HP:0001263	Global developmental delay	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0012759	HP:0000750	Delayed speech and language development	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0012759	HP:0001270	Motor delay	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0012759	HP:0000750	Delayed speech and language development	2	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0012759	HP:0000750	Delayed speech and language development	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0012759	HP:0001263	Global developmental delay	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0012759	HP:0001263	Global developmental delay	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0012759	HP:0010864	Intellectual disability, severe	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0012759	HP:0001263	Global developmental delay	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.		29
HP:0012759	HP:0001256	Intellectual disability, mild	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0012759	HP:0001263	Global developmental delay	2	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity	.		183
HP:0012759	HP:0001263	Global developmental delay	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0012759	HP:0001263	Global developmental delay	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0012759	HP:0001270	Motor delay	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0012759	HP:0001270	Motor delay	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012759	HP:0001270	Motor delay	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.		7
HP:0012759	HP:0001270	Motor delay	2	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0012759	HP:0001263	Global developmental delay	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0012759	HP:0001263	Global developmental delay	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0012759	HP:0010864	Intellectual disability, severe	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0012759	HP:0001263	Global developmental delay	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0012759	HP:0001270	Motor delay	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0000750	Delayed speech and language development	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0012759	HP:0001270	Motor delay	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0012759	HP:0001263	Global developmental delay	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0012759	HP:0001256	Intellectual disability, mild	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0012759	HP:0001263	Global developmental delay	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0012759	HP:0006887	Intellectual disability, progressive	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0012759	HP:0001263	Global developmental delay	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040281 - Very frequent		88
HP:0012759	HP:0001256	Intellectual disability, mild	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0012759	HP:0001263	Global developmental delay	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0012759	HP:0001270	Motor delay	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0012759	HP:0001263	Global developmental delay	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional		150
HP:0012759	HP:0001263	Global developmental delay	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012759	HP:0001263	Global developmental delay	2	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0012759	HP:0001256	Intellectual disability, mild	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0012759	HP:0001270	Motor delay	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012759	HP:0001270	Motor delay	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012759	HP:0001270	Motor delay	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0012759	HP:0001270	Motor delay	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0012759	HP:0001270	Motor delay	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0012759	HP:0001263	Global developmental delay	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001270	Motor delay	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0012759	HP:0001270	Motor delay	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0012759	HP:0001263	Global developmental delay	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012759	HP:0001263	Global developmental delay	2	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040282 - Frequent		35
HP:0012759	HP:0001263	Global developmental delay	2	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.		35
HP:0012759	HP:0001263	Global developmental delay	2	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0012759	HP:0001263	Global developmental delay	2	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		192
HP:0012759	HP:0001263	Global developmental delay	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0012759	HP:0001270	Motor delay	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0012759	HP:0000750	Delayed speech and language development	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0012759	HP:0001270	Motor delay	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0012759	HP:0001270	Motor delay	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0012759	HP:0001270	Motor delay	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		217
HP:0012759	HP:0001270	Motor delay	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0012759	HP:0001270	Motor delay	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	HP:0040284 - Very rare		2
HP:0012759	HP:0000750	Delayed speech and language development	2	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization	.		2
HP:0012759	HP:0001263	Global developmental delay	2	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	HP:0040284 - Very rare
HP:0012759	HP:0000750	Delayed speech and language development	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0012759	HP:0001263	Global developmental delay	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0012759	HP:0001270	Motor delay	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0012759	HP:0001270	Motor delay	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0012759	HP:0001263	Global developmental delay	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0012759	HP:0001263	Global developmental delay	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0012759	HP:0001270	Motor delay	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0012759	HP:0000750	Delayed speech and language development	2	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0001263	Global developmental delay	2	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0001270	Motor delay	2	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0012759	HP:0001263	Global developmental delay	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0001270	Motor delay	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0000750	Delayed speech and language development	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012759	HP:0001263	Global developmental delay	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0012759	HP:0001263	Global developmental delay	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040281 - Very frequent		1
HP:0012759	HP:0002187	Intellectual disability, profound	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0012759	HP:0001263	Global developmental delay	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0012759	HP:0010864	Intellectual disability, severe	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0012759	HP:0001256	Intellectual disability, mild	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040281 - Very frequent		47
HP:0012759	HP:0001256	Intellectual disability, mild	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0012759	HP:0001263	Global developmental delay	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0012759	HP:0010864	Intellectual disability, severe	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0012759	HP:0001263	Global developmental delay	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0012759	HP:0000750	Delayed speech and language development	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0012759	HP:0001263	Global developmental delay	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0012759	HP:0001270	Motor delay	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0012759	HP:0001263	Global developmental delay	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0012759	HP:0000750	Delayed speech and language development	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0001263	Global developmental delay	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0001270	Motor delay	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0010864	Intellectual disability, severe	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0010864	Intellectual disability, severe	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0012759	HP:0001263	Global developmental delay	2	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0012759	HP:0002187	Intellectual disability, profound	2	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0012759	HP:0000750	Delayed speech and language development	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0001263	Global developmental delay	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0001270	Motor delay	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0000750	Delayed speech and language development	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0001263	Global developmental delay	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0001270	Motor delay	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0001256	Intellectual disability, mild	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	HP:0040283 - Occasional		34
HP:0012759	HP:0001263	Global developmental delay	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0012759	HP:0001263	Global developmental delay	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012759	HP:0001263	Global developmental delay	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012759	HP:0001263	Global developmental delay	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012759	HP:0001263	Global developmental delay	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012759	HP:0000750	Delayed speech and language development	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0001263	Global developmental delay	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0001270	Motor delay	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0000750	Delayed speech and language development	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0012759	HP:0000750	Delayed speech and language development	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0012759	HP:0001263	Global developmental delay	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0012759	HP:0001270	Motor delay	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive	.
HP:0012759	HP:0000750	Delayed speech and language development	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0001270	Motor delay	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0001263	Global developmental delay	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0012759	HP:0001263	Global developmental delay	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.		96
HP:0012759	HP:0002187	Intellectual disability, profound	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.		96
HP:0012759	HP:0001263	Global developmental delay	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0012759	HP:0001263	Global developmental delay	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0012759	HP:0006887	Intellectual disability, progressive	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0012759	HP:0001263	Global developmental delay	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare
HP:0012759	HP:0006889	Intellectual disability, borderline	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012759	HP:0006889	Intellectual disability, borderline	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0012759	HP:0001256	Intellectual disability, mild	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0012759	HP:0006889	Intellectual disability, borderline	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0012759	HP:0001256	Intellectual disability, mild	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0001263	Global developmental delay	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0001270	Motor delay	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0006887	Intellectual disability, progressive	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0012759	HP:0006887	Intellectual disability, progressive	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0012759	HP:0001270	Motor delay	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040282 - Frequent		82
HP:0012759	HP:0000750	Delayed speech and language development	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0001263	Global developmental delay	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0012759	HP:0001270	Motor delay	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0012759	HP:0001270	Motor delay	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0012759	HP:0001270	Motor delay	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.		7
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.		19
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012759	HP:0001270	Motor delay	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012759	HP:0033044	Motor regression	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0001270	Motor delay	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0001263	Global developmental delay	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.		39
HP:0012759	HP:0001263	Global developmental delay	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0012759	HP:0001263	Global developmental delay	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	HP:0040284 - Very rare		42
HP:0012759	HP:0001263	Global developmental delay	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0012759	HP:0001263	Global developmental delay	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0012759	HP:0001263	Global developmental delay	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012759	HP:0001270	Motor delay	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0012759	HP:0001270	Motor delay	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0012759	HP:0001270	Motor delay	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0012759	HP:0001270	Motor delay	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0012759	HP:0001263	Global developmental delay	2	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0012759	HP:0001263	Global developmental delay	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0012759	HP:0001270	Motor delay	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040283 - Occasional		118
HP:0012759	HP:0001270	Motor delay	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0012759	HP:0001270	Motor delay	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional		118
HP:0012759	HP:0001263	Global developmental delay	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012759	HP:0001270	Motor delay	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0012759	HP:0001270	Motor delay	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0012759	HP:0001263	Global developmental delay	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0012759	HP:0000750	Delayed speech and language development	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040284 - Very rare		101
HP:0012759	HP:0001270	Motor delay	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040284 - Very rare		101
HP:0012759	HP:0000750	Delayed speech and language development	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0012759	HP:0001263	Global developmental delay	2	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0012759	HP:0001263	Global developmental delay	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0012759	HP:0001270	Motor delay	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0012759	HP:0001263	Global developmental delay	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0012759	HP:0001263	Global developmental delay	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040281 - Very frequent		43
HP:0012759	HP:0001270	Motor delay	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0012759	HP:0010864	Intellectual disability, severe	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040284 - Very rare		43
HP:0012759	HP:0001263	Global developmental delay	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0012759	HP:0001270	Motor delay	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012759	HP:0000750	Delayed speech and language development	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0001263	Global developmental delay	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0001270	Motor delay	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0000750	Delayed speech and language development	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0012759	HP:0001263	Global developmental delay	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0012759	HP:0000750	Delayed speech and language development	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0012759	HP:0001263	Global developmental delay	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0012759	HP:0001263	Global developmental delay	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0012759	HP:0000750	Delayed speech and language development	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional		1952
HP:0012759	HP:0001263	Global developmental delay	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0012759	HP:0001263	Global developmental delay	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0012759	HP:0001256	Intellectual disability, mild	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0012759	HP:0000750	Delayed speech and language development	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0012759	HP:0001263	Global developmental delay	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0012759	HP:0001263	Global developmental delay	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0012759	HP:0001263	Global developmental delay	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0012759	HP:0001270	Motor delay	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0012759	HP:0000750	Delayed speech and language development	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0012759	HP:0001256	Intellectual disability, mild	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0012759	HP:0001263	Global developmental delay	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0012759	HP:0001263	Global developmental delay	2	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0012759	HP:0001263	Global developmental delay	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001270	Motor delay	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0010864	Intellectual disability, severe	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0012759	HP:0001256	Intellectual disability, mild	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0010864	Intellectual disability, severe	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0012759	HP:0000750	Delayed speech and language development	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0001263	Global developmental delay	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0001270	Motor delay	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0000750	Delayed speech and language development	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0012759	HP:0001270	Motor delay	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0012759	HP:0001263	Global developmental delay	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0001263	Global developmental delay	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012759	HP:0033044	Motor regression	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012759	HP:0001263	Global developmental delay	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0012759	HP:0001256	Intellectual disability, mild	2	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent		20
HP:0012759	HP:0001256	Intellectual disability, mild	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional		20
HP:0012759	HP:0000750	Delayed speech and language development	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012759	HP:0001263	Global developmental delay	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0001270	Motor delay	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012759	HP:0002187	Intellectual disability, profound	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0033044	Motor regression	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0001263	Global developmental delay	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012759	HP:0001263	Global developmental delay	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0012759	HP:0001270	Motor delay	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0012759	HP:0001263	Global developmental delay	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0012759	HP:0001263	Global developmental delay	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0012759	HP:0010864	Intellectual disability, severe	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0012759	HP:0001263	Global developmental delay	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0012759	HP:0010864	Intellectual disability, severe	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0012759	HP:0000750	Delayed speech and language development	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0012759	HP:0001263	Global developmental delay	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0012759	HP:0001270	Motor delay	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0012759	HP:0010522	Dyslexia	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0012759	HP:0000750	Delayed speech and language development	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001270	Motor delay	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0010522	Dyslexia	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0012759	HP:0000750	Delayed speech and language development	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0012759	HP:0001263	Global developmental delay	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012759	HP:0001263	Global developmental delay	2	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		51
HP:0012759	HP:0010864	Intellectual disability, severe	2	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		51
HP:0012759	HP:0001256	Intellectual disability, mild	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0012759	HP:0001263	Global developmental delay	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0012759	HP:0001270	Motor delay	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0012759	HP:0001270	Motor delay	2	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	.		51
HP:0012759	HP:0001263	Global developmental delay	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0012759	HP:0001270	Motor delay	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.		51
HP:0012759	HP:0001263	Global developmental delay	2	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		90
HP:0012759	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		90
HP:0012759	HP:0006887	Intellectual disability, progressive	2	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0012759	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0012759	HP:0001263	Global developmental delay	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		90
HP:0012759	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		90
HP:0012759	HP:0001270	Motor delay	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0012759	HP:0001263	Global developmental delay	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012759	HP:0001270	Motor delay	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0012759	HP:0001263	Global developmental delay	2	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	HP:0040282 - Frequent		24
HP:0012759	HP:0000750	Delayed speech and language development	2	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.		57
HP:0012759	HP:0001256	Intellectual disability, mild	2	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0012759	HP:0001263	Global developmental delay	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0012759	HP:0000750	Delayed speech and language development	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0012759	HP:0001263	Global developmental delay	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		15
HP:0012759	HP:0001263	Global developmental delay	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0001270	Motor delay	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0012759	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0012759	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0012759	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0012759	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0012759	HP:0000750	Delayed speech and language development	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0001256	Intellectual disability, mild	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0001270	Motor delay	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0012759	HP:0000750	Delayed speech and language development	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0001263	Global developmental delay	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0001270	Motor delay	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0001263	Global developmental delay	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0012759	HP:0001263	Global developmental delay	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0012759	HP:0001270	Motor delay	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0012759	HP:0000750	Delayed speech and language development	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0012759	HP:0001270	Motor delay	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0012759	HP:0000750	Delayed speech and language development	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0001270	Motor delay	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0012759	HP:0001263	Global developmental delay	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0012759	HP:0001263	Global developmental delay	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012759	HP:0001270	Motor delay	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012759	HP:0001263	Global developmental delay	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0012759	HP:0001263	Global developmental delay	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0012759	HP:0001263	Global developmental delay	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0012759	HP:0001263	Global developmental delay	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0012759	HP:0001263	Global developmental delay	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0012759	HP:0000750	Delayed speech and language development	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0012759	HP:0001263	Global developmental delay	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0012759	HP:0000750	Delayed speech and language development	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0001256	Intellectual disability, mild	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0001263	Global developmental delay	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0012759	HP:0001263	Global developmental delay	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional		102
HP:0012759	HP:0000750	Delayed speech and language development	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0001270	Motor delay	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0006889	Intellectual disability, borderline	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012759	HP:0001263	Global developmental delay	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012759	HP:0001270	Motor delay	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012759	HP:0001263	Global developmental delay	2	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0012759	HP:0001256	Intellectual disability, mild	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0012759	HP:0001263	Global developmental delay	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0012759	HP:0002442	Dyscalculia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0012759	HP:0010864	Intellectual disability, severe	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0012759	HP:0000750	Delayed speech and language development	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0001263	Global developmental delay	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0001270	Motor delay	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0001263	Global developmental delay	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0012759	HP:0001263	Global developmental delay	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0012759	HP:0001263	Global developmental delay	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0012759	HP:0001263	Global developmental delay	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0012759	HP:0010864	Intellectual disability, severe	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0012759	HP:0010864	Intellectual disability, severe	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0012759	HP:0000750	Delayed speech and language development	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0000750	Delayed speech and language development	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0012759	HP:0001263	Global developmental delay	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0012759	HP:0001256	Intellectual disability, mild	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0012759	HP:0002187	Intellectual disability, profound	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012759	HP:0001263	Global developmental delay	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0012759	HP:0000750	Delayed speech and language development	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0001263	Global developmental delay	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0001270	Motor delay	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0000750	Delayed speech and language development	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0012759	HP:0001263	Global developmental delay	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0012759	HP:0002342	Intellectual disability, moderate	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0012759	HP:0001263	Global developmental delay	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012759	HP:0001263	Global developmental delay	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent		15
HP:0012759	HP:0001270	Motor delay	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent		15
HP:0012759	HP:0001270	Motor delay	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0012759	HP:0001256	Intellectual disability, mild	2	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare
HP:0012759	HP:0001256	Intellectual disability, mild	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001263	Global developmental delay	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0012759	HP:0001270	Motor delay	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0012759	HP:0000750	Delayed speech and language development	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0001263	Global developmental delay	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0001270	Motor delay	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0001256	Intellectual disability, mild	2	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent		97
HP:0012759	HP:0001263	Global developmental delay	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0012759	HP:0000750	Delayed speech and language development	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0001263	Global developmental delay	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0010864	Intellectual disability, severe	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0000750	Delayed speech and language development	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0012759	HP:0001263	Global developmental delay	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0012759	HP:0001263	Global developmental delay	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0012759	HP:0001270	Motor delay	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012759	HP:0000750	Delayed speech and language development	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0001263	Global developmental delay	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0001270	Motor delay	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0006889	Intellectual disability, borderline	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0001263	Global developmental delay	2	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012759	HP:0001263	Global developmental delay	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012759	HP:0000750	Delayed speech and language development	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0012759	HP:0001263	Global developmental delay	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0012759	HP:0001263	Global developmental delay	2	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.		1
HP:0012759	HP:0001263	Global developmental delay	2	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0012759	HP:0001256	Intellectual disability, mild	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0012759	HP:0001263	Global developmental delay	2	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0001263	Global developmental delay	2	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0001270	Motor delay	2	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0012759	HP:0000750	Delayed speech and language development	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0012759	HP:0001263	Global developmental delay	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012759	HP:0001263	Global developmental delay	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		121
HP:0012759	HP:0010864	Intellectual disability, severe	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0012759	HP:0001256	Intellectual disability, mild	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0012759	HP:0001263	Global developmental delay	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0012759	HP:0002342	Intellectual disability, moderate	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		121
HP:0012759	HP:0006889	Intellectual disability, borderline	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0012759	HP:0001256	Intellectual disability, mild	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0012759	HP:0001263	Global developmental delay	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0012759	HP:0002342	Intellectual disability, moderate	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0012759	HP:0006889	Intellectual disability, borderline	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0012759	HP:0001256	Intellectual disability, mild	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0012759	HP:0001263	Global developmental delay	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0012759	HP:0002342	Intellectual disability, moderate	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0012759	HP:0006889	Intellectual disability, borderline	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0012759	HP:0001263	Global developmental delay	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0012759	HP:0002187	Intellectual disability, profound	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0012759	HP:0001263	Global developmental delay	2	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0012759	HP:0000750	Delayed speech and language development	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0001263	Global developmental delay	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0001270	Motor delay	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.		201
HP:0012759	HP:0002187	Intellectual disability, profound	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.		201
HP:0012759	HP:0001263	Global developmental delay	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0012759	HP:0000750	Delayed speech and language development	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0012759	HP:0006887	Intellectual disability, progressive	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0012759	HP:0010864	Intellectual disability, severe	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0012759	HP:0000750	Delayed speech and language development	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012759	HP:0001270	Motor delay	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012759	HP:0001263	Global developmental delay	2	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0012759	HP:0001263	Global developmental delay	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0012759	HP:0001263	Global developmental delay	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0012759	HP:0001270	Motor delay	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0012759	HP:0001263	Global developmental delay	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0012759	HP:0010522	Dyslexia	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0012759	HP:0000750	Delayed speech and language development	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0001263	Global developmental delay	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0001270	Motor delay	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0001263	Global developmental delay	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0002342	Intellectual disability, moderate	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0012759	HP:0010864	Intellectual disability, severe	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0012759	HP:0001263	Global developmental delay	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		53
HP:0012759	HP:0001256	Intellectual disability, mild	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0012759	HP:0001263	Global developmental delay	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		21
HP:0012759	HP:0001263	Global developmental delay	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		39
HP:0012759	HP:0000750	Delayed speech and language development	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	HP:0040283 - Occasional		39
HP:0012759	HP:0001270	Motor delay	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	HP:0040283 - Occasional		39
HP:0012759	HP:0001263	Global developmental delay	2	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012759	HP:0001263	Global developmental delay	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012759	HP:0001263	Global developmental delay	2	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0012759	HP:0001263	Global developmental delay	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0012759	HP:0000750	Delayed speech and language development	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0010864	Intellectual disability, severe	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0001263	Global developmental delay	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.		4
HP:0012759	HP:0001270	Motor delay	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0010864	Intellectual disability, severe	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0001263	Global developmental delay	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012759	HP:0001263	Global developmental delay	2	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.		41
HP:0012759	HP:0001263	Global developmental delay	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0012759	HP:0001263	Global developmental delay	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0012759	HP:0001263	Global developmental delay	2	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0001270	Motor delay	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0002187	Intellectual disability, profound	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0000750	Delayed speech and language development	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0001263	Global developmental delay	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040281 - Very frequent		24
HP:0012759	HP:0000750	Delayed speech and language development	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0012759	HP:0001263	Global developmental delay	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0012759	HP:0000750	Delayed speech and language development	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0012759	HP:0001263	Global developmental delay	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0012759	HP:0001270	Motor delay	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0012759	HP:0001263	Global developmental delay	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		231
HP:0012759	HP:0001263	Global developmental delay	2	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.		231
HP:0012759	HP:0001256	Intellectual disability, mild	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0012759	HP:0001270	Motor delay	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0012759	HP:0002187	Intellectual disability, profound	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0012759	HP:0001263	Global developmental delay	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent		641
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent		641
HP:0012759	HP:0001263	Global developmental delay	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0012759	HP:0000750	Delayed speech and language development	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0001263	Global developmental delay	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0012759	HP:0001270	Motor delay	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0001263	Global developmental delay	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0012759	HP:0000750	Delayed speech and language development	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0001263	Global developmental delay	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0001270	Motor delay	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0001263	Global developmental delay	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0012759	HP:0001263	Global developmental delay	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0012759	HP:0001263	Global developmental delay	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0012759	HP:0001263	Global developmental delay	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0012759	HP:0001263	Global developmental delay	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0012759	HP:0001263	Global developmental delay	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0012759	HP:0001263	Global developmental delay	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0012759	HP:0000750	Delayed speech and language development	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012759	HP:0001263	Global developmental delay	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012759	HP:0000750	Delayed speech and language development	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0012759	HP:0001263	Global developmental delay	2	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		194
HP:0012759	HP:0001270	Motor delay	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0012759	HP:0001263	Global developmental delay	2	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		63
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		63
HP:0012759	HP:0001263	Global developmental delay	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		63
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		63
HP:0012759	HP:0001263	Global developmental delay	2	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		63
HP:0012759	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		63
HP:0012759	HP:0000750	Delayed speech and language development	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0012759	HP:0001263	Global developmental delay	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0012759	HP:0001270	Motor delay	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0012759	HP:0001263	Global developmental delay	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012759	HP:0001270	Motor delay	2	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D			24
HP:0012759	HP:0001263	Global developmental delay	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0012759	HP:0001263	Global developmental delay	2	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		96
HP:0012759	HP:0001263	Global developmental delay	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0012759	HP:0001263	Global developmental delay	2	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0012759	HP:0002187	Intellectual disability, profound	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0012759	HP:0001263	Global developmental delay	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0012759	HP:0001270	Motor delay	2	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.		352
HP:0012759	HP:0001263	Global developmental delay	2	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	HP:0040282 - Frequent		225
HP:0012759	HP:0000750	Delayed speech and language development	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0012759	HP:0001256	Intellectual disability, mild	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0012759	HP:0001263	Global developmental delay	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0012759	HP:0001270	Motor delay	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0012759	HP:0002187	Intellectual disability, profound	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0012759	HP:0010864	Intellectual disability, severe	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0012759	HP:0001263	Global developmental delay	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0012759	HP:0001263	Global developmental delay	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0012759	HP:0001263	Global developmental delay	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0012759	HP:0001263	Global developmental delay	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001263	Global developmental delay	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional		531
HP:0012759	HP:0001263	Global developmental delay	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0012759	HP:0001263	Global developmental delay	2	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0012759	HP:0001263	Global developmental delay	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		11
HP:0012759	HP:0000750	Delayed speech and language development	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0001270	Motor delay	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0001263	Global developmental delay	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0012759	HP:0001270	Motor delay	2	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.		5
HP:0012759	HP:0001270	Motor delay	2	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0001263	Global developmental delay	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0012759	HP:0000750	Delayed speech and language development	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0012759	HP:0001263	Global developmental delay	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0012759	HP:0000750	Delayed speech and language development	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0012759	HP:0001263	Global developmental delay	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0012759	HP:0001263	Global developmental delay	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22	.		1
HP:0012759	HP:0001263	Global developmental delay	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0012759	HP:0000750	Delayed speech and language development	2	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0012759	HP:0001263	Global developmental delay	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0012759	HP:0001263	Global developmental delay	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0012759	HP:0010864	Intellectual disability, severe	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0012759	HP:0001263	Global developmental delay	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0012759	HP:0002187	Intellectual disability, profound	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0012759	HP:0001263	Global developmental delay	2	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012759	HP:0001263	Global developmental delay	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0012759	HP:0001263	Global developmental delay	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional		98
HP:0012759	HP:0010864	Intellectual disability, severe	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional		98
HP:0012759	HP:0001270	Motor delay	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012759	HP:0001263	Global developmental delay	2	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0012759	HP:0000750	Delayed speech and language development	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0012759	HP:0001263	Global developmental delay	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012759	HP:0001270	Motor delay	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012759	HP:0010864	Intellectual disability, severe	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0012759	HP:0001263	Global developmental delay	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0012759	HP:0001263	Global developmental delay	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0012759	HP:0001263	Global developmental delay	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0012759	HP:0010864	Intellectual disability, severe	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0012759	HP:0001270	Motor delay	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012759	HP:0001263	Global developmental delay	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0012759	HP:0001263	Global developmental delay	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0012759	HP:0000750	Delayed speech and language development	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0012759	HP:0001263	Global developmental delay	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0012759	HP:0006887	Intellectual disability, progressive	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0012759	HP:0010864	Intellectual disability, severe	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0012759	HP:0000750	Delayed speech and language development	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0012759	HP:0001263	Global developmental delay	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0012759	HP:0001263	Global developmental delay	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0012759	HP:0001256	Intellectual disability, mild	2	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent		75
HP:0012759	HP:0001263	Global developmental delay	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0012759	HP:0001263	Global developmental delay	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0012759	HP:0001263	Global developmental delay	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0012759	HP:0001263	Global developmental delay	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0012759	HP:0001263	Global developmental delay	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0012759	HP:0001263	Global developmental delay	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0012759	HP:0001263	Global developmental delay	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0012759	HP:0001263	Global developmental delay	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0012759	HP:0001263	Global developmental delay	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0012759	HP:0001263	Global developmental delay	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0012759	HP:0001263	Global developmental delay	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0012759	HP:0001263	Global developmental delay	2	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.		66
HP:0012759	HP:0001263	Global developmental delay	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0012759	HP:0001263	Global developmental delay	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0012759	HP:0001263	Global developmental delay	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0012759	HP:0001263	Global developmental delay	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0012759	HP:0001263	Global developmental delay	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0012759	HP:0001263	Global developmental delay	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0012759	HP:0001263	Global developmental delay	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0012759	HP:0001263	Global developmental delay	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0012759	HP:0001263	Global developmental delay	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0012759	HP:0001263	Global developmental delay	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0012759	HP:0001263	Global developmental delay	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0012759	HP:0001263	Global developmental delay	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0012759	HP:0001263	Global developmental delay	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0012759	HP:0001263	Global developmental delay	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0012759	HP:0001263	Global developmental delay	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0012759	HP:0001263	Global developmental delay	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0012759	HP:0001263	Global developmental delay	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0012759	HP:0001263	Global developmental delay	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0012759	HP:0001263	Global developmental delay	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0012759	HP:0001263	Global developmental delay	2	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.		106
HP:0012759	HP:0001263	Global developmental delay	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0012759	HP:0001263	Global developmental delay	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0012759	HP:0001263	Global developmental delay	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0012759	HP:0001263	Global developmental delay	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0012759	HP:0001263	Global developmental delay	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0012759	HP:0001263	Global developmental delay	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0012759	HP:0001263	Global developmental delay	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0012759	HP:0001263	Global developmental delay	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0012759	HP:0001263	Global developmental delay	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0012759	HP:0010864	Intellectual disability, severe	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0012759	HP:0001263	Global developmental delay	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0012759	HP:0001263	Global developmental delay	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0012759	HP:0001263	Global developmental delay	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0012759	HP:0001263	Global developmental delay	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0012759	HP:0001263	Global developmental delay	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0012759	HP:0010864	Intellectual disability, severe	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0012759	HP:0001256	Intellectual disability, mild	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent		20
HP:0012759	HP:0001263	Global developmental delay	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent		20
HP:0012759	HP:0000750	Delayed speech and language development	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0001263	Global developmental delay	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0001270	Motor delay	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0010864	Intellectual disability, severe	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0000750	Delayed speech and language development	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0012759	HP:0001256	Intellectual disability, mild	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	HP:0040283 - Occasional		8
HP:0012759	HP:0001263	Global developmental delay	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0012759	HP:0001263	Global developmental delay	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0010864	Intellectual disability, severe	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0001263	Global developmental delay	2	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.		20
HP:0012759	HP:0001263	Global developmental delay	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		20
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0012759	HP:0010864	Intellectual disability, severe	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0012759	HP:0000750	Delayed speech and language development	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0012759	HP:0000750	Delayed speech and language development	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0012759	HP:0001263	Global developmental delay	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012759	HP:0001270	Motor delay	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012759	HP:0001263	Global developmental delay	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012759	HP:0001263	Global developmental delay	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent		15
HP:0012759	HP:0001263	Global developmental delay	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012759	HP:0001263	Global developmental delay	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0012759	HP:0010864	Intellectual disability, severe	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0012759	HP:0001270	Motor delay	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0012759	HP:0000750	Delayed speech and language development	2	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0012759	HP:0001263	Global developmental delay	2	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0012759	HP:0001263	Global developmental delay	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0012759	HP:0000750	Delayed speech and language development	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0012759	HP:0001256	Intellectual disability, mild	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0012759	HP:0001256	Intellectual disability, mild	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040281 - Very frequent		23
HP:0012759	HP:0001263	Global developmental delay	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012759	HP:0001263	Global developmental delay	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0012759	HP:0000750	Delayed speech and language development	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0012759	HP:0001263	Global developmental delay	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0012759	HP:0001270	Motor delay	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012759	HP:0001270	Motor delay	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.		54
HP:0012759	HP:0000750	Delayed speech and language development	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0001263	Global developmental delay	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0001270	Motor delay	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0000750	Delayed speech and language development	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0012759	HP:0001263	Global developmental delay	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0012759	HP:0001270	Motor delay	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012759	HP:0001270	Motor delay	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012759	HP:0010864	Intellectual disability, severe	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0012759	HP:0000750	Delayed speech and language development	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0012759	HP:0000750	Delayed speech and language development	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0001263	Global developmental delay	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0001270	Motor delay	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0001263	Global developmental delay	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.		4
HP:0012759	HP:0001263	Global developmental delay	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012759	HP:0001263	Global developmental delay	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0012759	HP:0001256	Intellectual disability, mild	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	HP:0040284 - Very rare		77
HP:0012759	HP:0001263	Global developmental delay	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	HP:0040284 - Very rare		77
HP:0012759	HP:0001263	Global developmental delay	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0012759	HP:0001270	Motor delay	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0012759	HP:0001263	Global developmental delay	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012759	HP:0001263	Global developmental delay	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0012759	HP:0001263	Global developmental delay	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0012759	HP:0001263	Global developmental delay	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0012759	HP:0001263	Global developmental delay	2	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.		1
HP:0012759	HP:0001270	Motor delay	2	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0001263	Global developmental delay	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012759	HP:0001270	Motor delay	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0001263	Global developmental delay	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0002187	Intellectual disability, profound	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0012759	HP:0001263	Global developmental delay	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	HP:0040284 - Very rare		1
HP:0012759	HP:0001263	Global developmental delay	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0012759	HP:0001263	Global developmental delay	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		36
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0012759	HP:0001263	Global developmental delay	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0012759	HP:0001263	Global developmental delay	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0012759	HP:0001263	Global developmental delay	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0001263	Global developmental delay	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0001270	Motor delay	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0001263	Global developmental delay	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		84
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0012759	HP:0001263	Global developmental delay	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0012759	HP:0001263	Global developmental delay	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0012759	HP:0002187	Intellectual disability, profound	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0012759	HP:0001263	Global developmental delay	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0001263	Global developmental delay	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0012759	HP:0001263	Global developmental delay	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0002187	Intellectual disability, profound	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	HP:0040283 - Occasional		57
HP:0012759	HP:0001263	Global developmental delay	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0012759	HP:0001263	Global developmental delay	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0000750	Delayed speech and language development	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0012759	HP:0001263	Global developmental delay	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0012759	HP:0001263	Global developmental delay	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001263	Global developmental delay	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0012759	HP:0001263	Global developmental delay	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0012759	HP:0001256	Intellectual disability, mild	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0012759	HP:0010864	Intellectual disability, severe	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.		9
HP:0012759	HP:0000750	Delayed speech and language development	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0012759	HP:0001263	Global developmental delay	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0012759	HP:0002187	Intellectual disability, profound	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0012759	HP:0001263	Global developmental delay	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012759	HP:0001263	Global developmental delay	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012759	HP:0001263	Global developmental delay	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional		133
HP:0012759	HP:0010522	Dyslexia	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0012759	HP:0000750	Delayed speech and language development	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0012759	HP:0000750	Delayed speech and language development	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0012759	HP:0001263	Global developmental delay	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0012759	HP:0000750	Delayed speech and language development	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0012759	HP:0001263	Global developmental delay	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012759	HP:0000750	Delayed speech and language development	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0012759	HP:0001270	Motor delay	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0012759	HP:0001263	Global developmental delay	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		82
HP:0012759	HP:0001263	Global developmental delay	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0012759	HP:0000750	Delayed speech and language development	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0012759	HP:0001270	Motor delay	2	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.		759
HP:0012759	HP:0001263	Global developmental delay	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0012759	HP:0001270	Motor delay	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent		759
HP:0012759	HP:0001263	Global developmental delay	2	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012759	HP:0010864	Intellectual disability, severe	2	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.		3
HP:0012759	HP:0001263	Global developmental delay	2	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0012759	HP:0001263	Global developmental delay	2	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0012759	HP:0001270	Motor delay	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0012759	HP:0001270	Motor delay	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0012759	HP:0001263	Global developmental delay	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0000750	Delayed speech and language development	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012759	HP:0001263	Global developmental delay	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012759	HP:0001263	Global developmental delay	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0012759	HP:0000750	Delayed speech and language development	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0012759	HP:0001256	Intellectual disability, mild	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0012759	HP:0001270	Motor delay	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012759	HP:0000750	Delayed speech and language development	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012759	HP:0010864	Intellectual disability, severe	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent		60
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040282 - Frequent		60
HP:0012759	HP:0010864	Intellectual disability, severe	2	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040282 - Frequent		60
HP:0012759	HP:0001256	Intellectual disability, mild	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0012759	HP:0000750	Delayed speech and language development	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012759	HP:0001263	Global developmental delay	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0012759	HP:0001270	Motor delay	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012759	HP:0001263	Global developmental delay	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0012759	HP:0001270	Motor delay	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012759	HP:0001263	Global developmental delay	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0012759	HP:0000750	Delayed speech and language development	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0012759	HP:0001270	Motor delay	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0012759	HP:0001270	Motor delay	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0012759	HP:0000750	Delayed speech and language development	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0012759	HP:0001270	Motor delay	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional		7
HP:0012759	HP:0000750	Delayed speech and language development	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0012759	HP:0001263	Global developmental delay	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012759	HP:0001263	Global developmental delay	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0012759	HP:0002442	Dyscalculia	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0012759	HP:0010522	Dyslexia	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0012759	HP:0001263	Global developmental delay	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		244
HP:0012759	HP:0001263	Global developmental delay	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0001270	Motor delay	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0010864	Intellectual disability, severe	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0012759	HP:0001270	Motor delay	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0012759	HP:0001263	Global developmental delay	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional		52
HP:0012759	HP:0001270	Motor delay	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012759	HP:0001256	Intellectual disability, mild	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0012759	HP:0001270	Motor delay	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0012759	HP:0001256	Intellectual disability, mild	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0012759	HP:0001263	Global developmental delay	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0012759	HP:0001263	Global developmental delay	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0012759	HP:0000750	Delayed speech and language development	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012759	HP:0000750	Delayed speech and language development	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012759	HP:0001263	Global developmental delay	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional		10
HP:0012759	HP:0000750	Delayed speech and language development	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012759	HP:0000750	Delayed speech and language development	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0012759	HP:0001256	Intellectual disability, mild	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0012759	HP:0001263	Global developmental delay	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0012759	HP:0001263	Global developmental delay	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040281 - Very frequent		35
HP:0012759	HP:0001270	Motor delay	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012759	HP:0010864	Intellectual disability, severe	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0012759	HP:0001263	Global developmental delay	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0012759	HP:0001263	Global developmental delay	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0012759	HP:0001263	Global developmental delay	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0012759	HP:0001263	Global developmental delay	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	HP:0040283 - Occasional		464
HP:0012759	HP:0001263	Global developmental delay	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0012759	HP:0001263	Global developmental delay	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.		38
HP:0012759	HP:0001270	Motor delay	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012759	HP:0001263	Global developmental delay	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0012759	HP:0000750	Delayed speech and language development	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0012759	HP:0001270	Motor delay	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0012759	HP:0001263	Global developmental delay	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0012759	HP:0001270	Motor delay	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0001263	Global developmental delay	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040282 - Frequent		138
HP:0012759	HP:0001256	Intellectual disability, mild	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001263	Global developmental delay	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001263	Global developmental delay	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001263	Global developmental delay	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0012759	HP:0002342	Intellectual disability, moderate	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0000750	Delayed speech and language development	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0001263	Global developmental delay	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0001270	Motor delay	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0001263	Global developmental delay	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040282 - Frequent		67
HP:0012759	HP:0000750	Delayed speech and language development	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0001256	Intellectual disability, mild	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0012759	HP:0001263	Global developmental delay	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0002342	Intellectual disability, moderate	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012759	HP:0033044	Motor regression	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012759	HP:0001270	Motor delay	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0012759	HP:0033044	Motor regression	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0000750	Delayed speech and language development	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0001270	Motor delay	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0000750	Delayed speech and language development	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0001263	Global developmental delay	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0012759	HP:0001263	Global developmental delay	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		180
HP:0012759	HP:0001263	Global developmental delay	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0012759	HP:0002187	Intellectual disability, profound	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0012759	HP:0001270	Motor delay	2	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.		180
HP:0012759	HP:0001270	Motor delay	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	HP:0040283 - Occasional		180
HP:0012759	HP:0001263	Global developmental delay	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0012759	HP:0001263	Global developmental delay	2	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	HP:0040284 - Very rare		33
HP:0012759	HP:0001270	Motor delay	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	HP:0040284 - Very rare		33
HP:0012759	HP:0001263	Global developmental delay	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001256	Intellectual disability, mild	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0012759	HP:0001263	Global developmental delay	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		18
HP:0012759	HP:0001263	Global developmental delay	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0012759	HP:0001270	Motor delay	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.		18
HP:0012759	HP:0006889	Intellectual disability, borderline	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0001263	Global developmental delay	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0001256	Intellectual disability, mild	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0012759	HP:0001263	Global developmental delay	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		213
HP:0012759	HP:0001263	Global developmental delay	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0012759	HP:0001270	Motor delay	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0012759	HP:0001270	Motor delay	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0012759	HP:0000750	Delayed speech and language development	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0001263	Global developmental delay	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0002187	Intellectual disability, profound	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0012759	HP:0000750	Delayed speech and language development	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0012759	HP:0001263	Global developmental delay	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0012759	HP:0001270	Motor delay	2	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0012759	HP:0000750	Delayed speech and language development	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0012759	HP:0001263	Global developmental delay	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0012759	HP:0001256	Intellectual disability, mild	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0012759	HP:0001263	Global developmental delay	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		221
HP:0012759	HP:0001263	Global developmental delay	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0012759	HP:0001270	Motor delay	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0012759	HP:0000750	Delayed speech and language development	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0001263	Global developmental delay	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0002187	Intellectual disability, profound	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0012759	HP:0002187	Intellectual disability, profound	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0012759	HP:0010864	Intellectual disability, severe	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0012759	HP:0001270	Motor delay	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0012759	HP:0001270	Motor delay	2	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.		221
HP:0012759	HP:0001263	Global developmental delay	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional		221
HP:0012759	HP:0001270	Motor delay	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0012759	HP:0001263	Global developmental delay	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0012759	HP:0000750	Delayed speech and language development	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0012759	HP:0001270	Motor delay	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0012759	HP:0001263	Global developmental delay	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012759	HP:0000750	Delayed speech and language development	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012759	HP:0001263	Global developmental delay	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012759	HP:0001256	Intellectual disability, mild	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0012759	HP:0000750	Delayed speech and language development	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0012759	HP:0000750	Delayed speech and language development	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0001263	Global developmental delay	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0001270	Motor delay	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0000750	Delayed speech and language development	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0001270	Motor delay	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0010864	Intellectual disability, severe	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0012434	Delayed social development	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0001263	Global developmental delay	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0012759	HP:0001263	Global developmental delay	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0012759	HP:0001263	Global developmental delay	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0012759	HP:0001263	Global developmental delay	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0012759	HP:0010864	Intellectual disability, severe	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012759	HP:0001263	Global developmental delay	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0012759	HP:0001263	Global developmental delay	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0012759	HP:0001270	Motor delay	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012759	HP:0001263	Global developmental delay	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0012759	HP:0001270	Motor delay	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012759	HP:0010864	Intellectual disability, severe	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0012759	HP:0001263	Global developmental delay	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001263	Global developmental delay	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001270	Motor delay	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0010864	Intellectual disability, severe	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0001263	Global developmental delay	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0012759	HP:0001270	Motor delay	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012759	HP:0001263	Global developmental delay	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0012759	HP:0001263	Global developmental delay	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0012759	HP:0001263	Global developmental delay	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0012759	HP:0001256	Intellectual disability, mild	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040281 - Very frequent		28
HP:0012759	HP:0001263	Global developmental delay	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040281 - Very frequent		28
HP:0012759	HP:0001256	Intellectual disability, mild	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional		28
HP:0012759	HP:0001263	Global developmental delay	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent		28
HP:0012759	HP:0010864	Intellectual disability, severe	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent		28
HP:0012759	HP:0001263	Global developmental delay	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0012759	HP:0001270	Motor delay	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0012759	HP:0001263	Global developmental delay	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0012759	HP:0001270	Motor delay	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0012759	HP:0000750	Delayed speech and language development	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0012759	HP:0001263	Global developmental delay	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0012759	HP:0001263	Global developmental delay	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0012759	HP:0001263	Global developmental delay	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001270	Motor delay	2	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.		7
HP:0012759	HP:0001263	Global developmental delay	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.		58
HP:0012759	HP:0001263	Global developmental delay	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0001270	Motor delay	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0001263	Global developmental delay	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0012759	HP:0000750	Delayed speech and language development	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0012759	HP:0001263	Global developmental delay	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0012759	HP:0000750	Delayed speech and language development	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0012759	HP:0001263	Global developmental delay	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0012759	HP:0001263	Global developmental delay	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0012759	HP:0001270	Motor delay	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0012759	HP:0001270	Motor delay	2	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040283 - Occasional		37
HP:0012759	HP:0000750	Delayed speech and language development	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0012759	HP:0001263	Global developmental delay	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0012759	HP:0001270	Motor delay	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0012759	HP:0001256	Intellectual disability, mild	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0010864	Intellectual disability, severe	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0000750	Delayed speech and language development	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0012759	HP:0001263	Global developmental delay	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.		65
HP:0012759	HP:0000750	Delayed speech and language development	2	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0012759	HP:0001263	Global developmental delay	2	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0012759	HP:0001263	Global developmental delay	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		34
HP:0012759	HP:0001263	Global developmental delay	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0012759	HP:0001263	Global developmental delay	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012759	HP:0001263	Global developmental delay	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012759	HP:0000750	Delayed speech and language development	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012759	HP:0001263	Global developmental delay	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0012759	HP:0001270	Motor delay	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.		49
HP:0012759	HP:0001256	Intellectual disability, mild	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0012759	HP:0001270	Motor delay	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0012759	HP:0001263	Global developmental delay	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0012759	HP:0001270	Motor delay	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.		49
HP:0012759	HP:0001263	Global developmental delay	2	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040284 - Very rare		49
HP:0012759	HP:0001263	Global developmental delay	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0012759	HP:0002187	Intellectual disability, profound	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040281 - Very frequent		49
HP:0012759	HP:0000750	Delayed speech and language development	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0001263	Global developmental delay	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0001270	Motor delay	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare		94
HP:0012759	HP:0010864	Intellectual disability, severe	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0012759	HP:0000750	Delayed speech and language development	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0001263	Global developmental delay	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0002187	Intellectual disability, profound	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0000750	Delayed speech and language development	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0001263	Global developmental delay	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0010864	Intellectual disability, severe	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0001270	Motor delay	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0012759	HP:0001270	Motor delay	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0012759	HP:0001263	Global developmental delay	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0012759	HP:0001263	Global developmental delay	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0012759	HP:0001263	Global developmental delay	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.		27
HP:0012759	HP:0001263	Global developmental delay	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0012759	HP:0002442	Dyscalculia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0012759	HP:0010522	Dyslexia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0012759	HP:0010522	Dyslexia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0012759	HP:0000750	Delayed speech and language development	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0001263	Global developmental delay	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0001270	Motor delay	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0010864	Intellectual disability, severe	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0001256	Intellectual disability, mild	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012759	HP:0000750	Delayed speech and language development	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0010864	Intellectual disability, severe	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0001263	Global developmental delay	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0012759	HP:0000750	Delayed speech and language development	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001256	Intellectual disability, mild	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0001263	Global developmental delay	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0001270	Motor delay	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0012759	HP:0000750	Delayed speech and language development	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012759	HP:0001270	Motor delay	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012759	HP:0001263	Global developmental delay	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent		54
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent		54
HP:0012759	HP:0001263	Global developmental delay	2	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.		54
HP:0012759	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0012759	HP:0001270	Motor delay	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0012759	HP:0001263	Global developmental delay	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0012759	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0012759	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0012759	HP:0001263	Global developmental delay	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0012759	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0012759	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0012759	HP:0001270	Motor delay	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0012759	HP:0001263	Global developmental delay	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0012759	HP:0001270	Motor delay	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012759	HP:0001263	Global developmental delay	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0012759	HP:0001270	Motor delay	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		948
HP:0012759	HP:0010864	Intellectual disability, severe	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0012759	HP:0001263	Global developmental delay	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0012759	HP:0001256	Intellectual disability, mild	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0012759	HP:0001263	Global developmental delay	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0012759	HP:0001256	Intellectual disability, mild	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0012759	HP:0001270	Motor delay	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0012759	HP:0001263	Global developmental delay	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0012759	HP:0001270	Motor delay	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0012759	HP:0001256	Intellectual disability, mild	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0012759	HP:0001256	Intellectual disability, mild	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0012759	HP:0001263	Global developmental delay	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0012759	HP:0001263	Global developmental delay	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0012759	HP:0001270	Motor delay	2	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.		7
HP:0012759	HP:0001263	Global developmental delay	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0012759	HP:0001270	Motor delay	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0012759	HP:0000750	Delayed speech and language development	2	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0012759	HP:0001263	Global developmental delay	2	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0012759	HP:0001270	Motor delay	2	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0012759	HP:0001263	Global developmental delay	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0012759	HP:0006887	Intellectual disability, progressive	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0012759	HP:0000750	Delayed speech and language development	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0012759	HP:0001263	Global developmental delay	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0002342	Intellectual disability, moderate	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0012759	HP:0000750	Delayed speech and language development	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0012759	HP:0001270	Motor delay	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012759	HP:0001263	Global developmental delay	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0012759	HP:0001263	Global developmental delay	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040281 - Very frequent		53
HP:0012759	HP:0000750	Delayed speech and language development	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0012759	HP:0001270	Motor delay	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0012759	HP:0010864	Intellectual disability, severe	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0012759	HP:0001263	Global developmental delay	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0002187	Intellectual disability, profound	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0012759	HP:0000750	Delayed speech and language development	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002187	Intellectual disability, profound	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012759	HP:0001263	Global developmental delay	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0012759	HP:0001270	Motor delay	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012759	HP:0000750	Delayed speech and language development	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0012759	HP:0000750	Delayed speech and language development	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0012759	HP:0001256	Intellectual disability, mild	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0012759	HP:0001263	Global developmental delay	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0012759	HP:0001263	Global developmental delay	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0012759	HP:0010864	Intellectual disability, severe	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0012759	HP:0000750	Delayed speech and language development	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0012759	HP:0001263	Global developmental delay	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0012759	HP:0000750	Delayed speech and language development	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012759	HP:0001263	Global developmental delay	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012759	HP:0001270	Motor delay	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0012759	HP:0001263	Global developmental delay	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0012759	HP:0001263	Global developmental delay	2	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency	HP:0040281 - Very frequent		43
HP:0012759	HP:0001263	Global developmental delay	2	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0012759	HP:0000750	Delayed speech and language development	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0012759	HP:0001270	Motor delay	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0012759	HP:0000750	Delayed speech and language development	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012759	HP:0001263	Global developmental delay	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0012759	HP:0001270	Motor delay	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012759	HP:0001263	Global developmental delay	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0012759	HP:0000750	Delayed speech and language development	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0001263	Global developmental delay	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0002187	Intellectual disability, profound	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0012759	HP:0001263	Global developmental delay	2	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0012759	HP:0001256	Intellectual disability, mild	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0012759	HP:0001263	Global developmental delay	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0001270	Motor delay	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0012759	HP:0001256	Intellectual disability, mild	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent		135
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent		135
HP:0012759	HP:0000750	Delayed speech and language development	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0001270	Motor delay	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0006887	Intellectual disability, progressive	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0000750	Delayed speech and language development	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0012759	HP:0001263	Global developmental delay	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0012759	HP:0000750	Delayed speech and language development	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0000750	Delayed speech and language development	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0012759	HP:0000750	Delayed speech and language development	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012759	HP:0001263	Global developmental delay	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040281 - Very frequent		3
HP:0012759	HP:0001270	Motor delay	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0012759	HP:0001263	Global developmental delay	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0012759	HP:0001256	Intellectual disability, mild	2	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare		9
HP:0012759	HP:0001263	Global developmental delay	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0012759	HP:0001263	Global developmental delay	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0012759	HP:0001256	Intellectual disability, mild	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0012759	HP:0001263	Global developmental delay	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0012759	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0012759	HP:0001256	Intellectual disability, mild	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001270	Motor delay	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012759	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0012759	HP:0001263	Global developmental delay	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0012759	HP:0000750	Delayed speech and language development	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0001263	Global developmental delay	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0001270	Motor delay	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0000750	Delayed speech and language development	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0001263	Global developmental delay	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0001270	Motor delay	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0001270	Motor delay	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0012759	HP:0001263	Global developmental delay	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012759	HP:0001263	Global developmental delay	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0012759	HP:0001263	Global developmental delay	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0012759	HP:0001263	Global developmental delay	2	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0012759	HP:0001263	Global developmental delay	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0012759	HP:0001263	Global developmental delay	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0001270	Motor delay	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0001263	Global developmental delay	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.		16
HP:0012759	HP:0001263	Global developmental delay	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012759	HP:0001270	Motor delay	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0012759	HP:0001256	Intellectual disability, mild	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0001270	Motor delay	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0001256	Intellectual disability, mild	2	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0012759	HP:0001263	Global developmental delay	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		95
HP:0012759	HP:0001263	Global developmental delay	2	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.		2
HP:0012759	HP:0001263	Global developmental delay	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		45
HP:0012759	HP:0001263	Global developmental delay	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0012759	HP:0001263	Global developmental delay	2	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012759	HP:0001263	Global developmental delay	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0012759	HP:0000750	Delayed speech and language development	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0012759	HP:0001270	Motor delay	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0012759	HP:0000750	Delayed speech and language development	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012759	HP:0001263	Global developmental delay	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.		572
HP:0012759	HP:0001270	Motor delay	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0012759	HP:0010864	Intellectual disability, severe	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0012759	HP:0001263	Global developmental delay	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040280 - Obligate		92
HP:0012759	HP:0001263	Global developmental delay	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0012759	HP:0001263	Global developmental delay	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0012759	HP:0001263	Global developmental delay	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0012759	HP:0000750	Delayed speech and language development	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012759	HP:0001263	Global developmental delay	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012759	HP:0000750	Delayed speech and language development	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0012759	HP:0001263	Global developmental delay	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012759	HP:0001263	Global developmental delay	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012759	HP:0001263	Global developmental delay	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0012759	HP:0001263	Global developmental delay	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012759	HP:0001263	Global developmental delay	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		60
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0012759	HP:0000750	Delayed speech and language development	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0012759	HP:0001263	Global developmental delay	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0012759	HP:0001263	Global developmental delay	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0012759	HP:0001263	Global developmental delay	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0001263	Global developmental delay	2	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0012759	HP:0001263	Global developmental delay	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0001270	Motor delay	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0012759	HP:0001263	Global developmental delay	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0010864	Intellectual disability, severe	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0001270	Motor delay	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012759	HP:0001270	Motor delay	2	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0012759	HP:0001256	Intellectual disability, mild	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0012759	HP:0001263	Global developmental delay	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0012759	HP:0001263	Global developmental delay	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0012759	HP:0001256	Intellectual disability, mild	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0012759	HP:0001263	Global developmental delay	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0012759	HP:0001263	Global developmental delay	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002187	Intellectual disability, profound	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012759	HP:0001263	Global developmental delay	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012759	HP:0001263	Global developmental delay	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0001263	Global developmental delay	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0001270	Motor delay	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0010864	Intellectual disability, severe	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0012759	HP:0001263	Global developmental delay	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0010864	Intellectual disability, severe	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0012759	HP:0001263	Global developmental delay	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0012759	HP:0000750	Delayed speech and language development	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0001263	Global developmental delay	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0001270	Motor delay	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0000750	Delayed speech and language development	2	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0012759	HP:0001263	Global developmental delay	2	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0012759	HP:0001263	Global developmental delay	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		129
HP:0012759	HP:0001263	Global developmental delay	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0012759	HP:0012434	Delayed social development	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0012759	HP:0000750	Delayed speech and language development	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0012759	HP:0001263	Global developmental delay	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		109
HP:0012759	HP:0001263	Global developmental delay	2	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0012759	HP:0001263	Global developmental delay	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0012759	HP:0001263	Global developmental delay	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0012759	HP:0001263	Global developmental delay	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.		18
HP:0012759	HP:0000750	Delayed speech and language development	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0001263	Global developmental delay	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0001270	Motor delay	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0000750	Delayed speech and language development	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0010864	Intellectual disability, severe	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001263	Global developmental delay	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0012759	HP:0001270	Motor delay	2	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0012759	HP:0001263	Global developmental delay	2	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0012759	HP:0001263	Global developmental delay	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0012759	HP:0000750	Delayed speech and language development	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0001256	Intellectual disability, mild	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0001270	Motor delay	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0012759	HP:0001263	Global developmental delay	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0012759	HP:0001270	Motor delay	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012759	HP:0000750	Delayed speech and language development	2	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0012759	HP:0000750	Delayed speech and language development	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0012759	HP:0000750	Delayed speech and language development	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0012759	HP:0000750	Delayed speech and language development	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0012759	HP:0000750	Delayed speech and language development	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0012759	HP:0000750	Delayed speech and language development	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0012759	HP:0001256	Intellectual disability, mild	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0001270	Motor delay	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001270	Motor delay	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0012759	HP:0001263	Global developmental delay	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0012759	HP:0001270	Motor delay	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0012759	HP:0001263	Global developmental delay	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0012759	HP:0001263	Global developmental delay	2	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	HP:0040281 - Very frequent		77
HP:0012759	HP:0001263	Global developmental delay	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0012759	HP:0001256	Intellectual disability, mild	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0012759	HP:0001263	Global developmental delay	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0012759	HP:0001263	Global developmental delay	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0012759	HP:0010864	Intellectual disability, severe	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0012759	HP:0000750	Delayed speech and language development	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0012759	HP:0002342	Intellectual disability, moderate	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0012759	HP:0000750	Delayed speech and language development	2	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent		9
HP:0012759	HP:0001270	Motor delay	2	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0012759	HP:0000750	Delayed speech and language development	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0001256	Intellectual disability, mild	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0001263	Global developmental delay	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0001270	Motor delay	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0000750	Delayed speech and language development	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0012759	HP:0001263	Global developmental delay	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0012759	HP:0001270	Motor delay	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0012759	HP:0001263	Global developmental delay	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012759	HP:0000750	Delayed speech and language development	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0012759	HP:0001256	Intellectual disability, mild	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040282 - Frequent		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0012759	HP:0001270	Motor delay	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0012759	HP:0001263	Global developmental delay	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0012759	HP:0001263	Global developmental delay	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0012759	HP:0001263	Global developmental delay	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0012759	HP:0001270	Motor delay	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0012759	HP:0001263	Global developmental delay	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0002187	Intellectual disability, profound	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0001263	Global developmental delay	2	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0012759	HP:0001256	Intellectual disability, mild	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0012759	HP:0001270	Motor delay	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0012759	HP:0010522	Dyslexia	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0012759	HP:0001263	Global developmental delay	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0012759	HP:0010864	Intellectual disability, severe	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0001263	Global developmental delay	2	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0001270	Motor delay	2	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0001263	Global developmental delay	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0001270	Motor delay	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0006834	Developmental stagnation at onset of seizures	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0010864	Intellectual disability, severe	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0001263	Global developmental delay	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0012759	HP:0001263	Global developmental delay	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0012759	HP:0001263	Global developmental delay	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040281 - Very frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0012759	HP:0000750	Delayed speech and language development	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0012759	HP:0001263	Global developmental delay	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040281 - Very frequent		34
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0012759	HP:0001256	Intellectual disability, mild	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0012759	HP:0001263	Global developmental delay	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0012759	HP:0001270	Motor delay	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012759	HP:0001263	Global developmental delay	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent		80
HP:0012759	HP:0001270	Motor delay	2	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.		19
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0001263	Global developmental delay	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0002187	Intellectual disability, profound	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0001263	Global developmental delay	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0001270	Motor delay	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0010864	Intellectual disability, severe	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0012759	HP:0001263	Global developmental delay	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0012759	HP:0001263	Global developmental delay	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		126
HP:0012759	HP:0001263	Global developmental delay	2	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.		126
HP:0012759	HP:0001263	Global developmental delay	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		427
HP:0012759	HP:0001263	Global developmental delay	2	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.		427
HP:0012759	HP:0001270	Motor delay	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	HP:0040284 - Very rare		70
HP:0012759	HP:0001263	Global developmental delay	2	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	HP:0040284 - Very rare		70
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0012759	HP:0001263	Global developmental delay	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0012759	HP:0001263	Global developmental delay	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0012759	HP:0001270	Motor delay	2	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.		263
HP:0012759	HP:0001270	Motor delay	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	.		357
HP:0012759	HP:0001256	Intellectual disability, mild	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0012759	HP:0001263	Global developmental delay	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	.		357
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0012759	HP:0001263	Global developmental delay	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.		357
HP:0012759	HP:0001270	Motor delay	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0012759	HP:0002187	Intellectual disability, profound	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0012759	HP:0010864	Intellectual disability, severe	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0012759	HP:0000750	Delayed speech and language development	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0012759	HP:0001263	Global developmental delay	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0012759	HP:0000750	Delayed speech and language development	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0012759	HP:0001270	Motor delay	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0012759	HP:0001263	Global developmental delay	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0012759	HP:0001263	Global developmental delay	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001263	Global developmental delay	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	HP:0040283 - Occasional		5
HP:0012759	HP:0001270	Motor delay	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0012759	HP:0001263	Global developmental delay	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0012759	HP:0001263	Global developmental delay	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0012759	HP:0001263	Global developmental delay	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012759	HP:0001256	Intellectual disability, mild	2	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0012759	HP:0000750	Delayed speech and language development	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0012759	HP:0001263	Global developmental delay	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0012759	HP:0001270	Motor delay	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0012759	HP:0001263	Global developmental delay	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0012759	HP:0010864	Intellectual disability, severe	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0012759	HP:0001263	Global developmental delay	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012759	HP:0000750	Delayed speech and language development	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0012759	HP:0001263	Global developmental delay	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0012759	HP:0001270	Motor delay	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0012759	HP:0000750	Delayed speech and language development	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0012759	HP:0001263	Global developmental delay	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0012759	HP:0001270	Motor delay	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0012759	HP:0000750	Delayed speech and language development	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0001270	Motor delay	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0001263	Global developmental delay	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0012759	HP:0001263	Global developmental delay	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0012759	HP:0000750	Delayed speech and language development	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0012759	HP:0001263	Global developmental delay	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0012759	HP:0001270	Motor delay	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0012759	HP:0001263	Global developmental delay	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012759	HP:0000750	Delayed speech and language development	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0001256	Intellectual disability, mild	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012759	HP:0033044	Motor regression	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0000750	Delayed speech and language development	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0001256	Intellectual disability, mild	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0001270	Motor delay	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0012759	HP:0001270	Motor delay	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0012759	HP:0001270	Motor delay	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0012759	HP:0001270	Motor delay	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0012759	HP:0001263	Global developmental delay	2	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional		144
HP:0012759	HP:0001263	Global developmental delay	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0001263	Global developmental delay	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0012759	HP:0010864	Intellectual disability, severe	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0012759	HP:0000750	Delayed speech and language development	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0001263	Global developmental delay	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0001270	Motor delay	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0010864	Intellectual disability, severe	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0001263	Global developmental delay	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0012759	HP:0001270	Motor delay	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0012759	HP:0001263	Global developmental delay	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0012759	HP:0002187	Intellectual disability, profound	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0012759	HP:0000750	Delayed speech and language development	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012759	HP:0001263	Global developmental delay	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012759	HP:0000750	Delayed speech and language development	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0012759	HP:0001263	Global developmental delay	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0012759	HP:0001270	Motor delay	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0012759	HP:0000750	Delayed speech and language development	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040281 - Very frequent		143
HP:0012759	HP:0001256	Intellectual disability, mild	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040282 - Frequent		143
HP:0012759	HP:0001270	Motor delay	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040281 - Very frequent		143
HP:0012759	HP:0002187	Intellectual disability, profound	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0012759	HP:0010864	Intellectual disability, severe	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0012759	HP:0000750	Delayed speech and language development	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0012759	HP:0001263	Global developmental delay	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0012759	HP:0001270	Motor delay	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0012759	HP:0001263	Global developmental delay	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0012759	HP:0001263	Global developmental delay	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012759	HP:0000750	Delayed speech and language development	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0001263	Global developmental delay	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0001270	Motor delay	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0012759	HP:0000750	Delayed speech and language development	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0001256	Intellectual disability, mild	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0001263	Global developmental delay	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0002187	Intellectual disability, profound	2	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012759	HP:0000750	Delayed speech and language development	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0012759	HP:0001263	Global developmental delay	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0012759	HP:0001256	Intellectual disability, mild	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0002442	Dyscalculia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0010864	Intellectual disability, severe	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0012759	HP:0000750	Delayed speech and language development	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040281 - Very frequent		43
HP:0012759	HP:0001270	Motor delay	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0012759	HP:0000750	Delayed speech and language development	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0001263	Global developmental delay	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0001270	Motor delay	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0001263	Global developmental delay	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0012759	HP:0000750	Delayed speech and language development	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0012759	HP:0001263	Global developmental delay	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0012759	HP:0000750	Delayed speech and language development	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent		49
HP:0012759	HP:0001263	Global developmental delay	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2			33
HP:0012759	HP:0000750	Delayed speech and language development	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0012759	HP:0001256	Intellectual disability, mild	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0012759	HP:0000750	Delayed speech and language development	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent		113
HP:0012759	HP:0001270	Motor delay	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0012759	HP:0001263	Global developmental delay	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0012759	HP:0000750	Delayed speech and language development	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001270	Motor delay	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0012759	HP:0001270	Motor delay	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0012759	HP:0000750	Delayed speech and language development	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent		53
HP:0012759	HP:0001263	Global developmental delay	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0012759	HP:0000750	Delayed speech and language development	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012759	HP:0001263	Global developmental delay	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012759	HP:0001270	Motor delay	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.		53
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.		53
HP:0012759	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0012759	HP:0001263	Global developmental delay	2	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.		67
HP:0012759	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0012759	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0012759	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0012759	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0012759	HP:0001256	Intellectual disability, mild	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0012759	HP:0000750	Delayed speech and language development	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0001270	Motor delay	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0010864	Intellectual disability, severe	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0001263	Global developmental delay	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0001270	Motor delay	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0000750	Delayed speech and language development	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012759	HP:0001263	Global developmental delay	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012759	HP:0000750	Delayed speech and language development	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0012759	HP:0010864	Intellectual disability, severe	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0012759	HP:0000750	Delayed speech and language development	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0012759	HP:0001270	Motor delay	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0012759	HP:0001263	Global developmental delay	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0012759	HP:0001270	Motor delay	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012759	HP:0000750	Delayed speech and language development	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0012759	HP:0001263	Global developmental delay	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0012759	HP:0001263	Global developmental delay	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0012759	HP:0000750	Delayed speech and language development	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0001263	Global developmental delay	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0012759	HP:0001270	Motor delay	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0001263	Global developmental delay	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0012759	HP:0001263	Global developmental delay	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0012759	HP:0000750	Delayed speech and language development	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0012759	HP:0000750	Delayed speech and language development	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0001270	Motor delay	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0001256	Intellectual disability, mild	2	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0012759	HP:0000750	Delayed speech and language development	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0001256	Intellectual disability, mild	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0012759	HP:0001263	Global developmental delay	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0012759	HP:0001270	Motor delay	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0010864	Intellectual disability, severe	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0001256	Intellectual disability, mild	2	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0012759	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0001263	Global developmental delay	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0012759	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0001263	Global developmental delay	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0012759	HP:0000750	Delayed speech and language development	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001263	Global developmental delay	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0012759	HP:0001256	Intellectual disability, mild	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0012759	HP:0001270	Motor delay	2	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0001270	Motor delay	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012759	HP:0001270	Motor delay	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0012759	HP:0001270	Motor delay	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0012759	HP:0001263	Global developmental delay	2	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040281 - Very frequent		163
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.		73
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0001263	Global developmental delay	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0001270	Motor delay	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0002187	Intellectual disability, profound	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0012759	HP:0001263	Global developmental delay	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0012759	HP:0001263	Global developmental delay	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0012759	HP:0001263	Global developmental delay	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0001263	Global developmental delay	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0012759	HP:0001270	Motor delay	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0001270	Motor delay	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0012759	HP:0001263	Global developmental delay	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040281 - Very frequent		110
HP:0012759	HP:0001263	Global developmental delay	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0012759	HP:0001263	Global developmental delay	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	HP:0040283 - Occasional		110
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012759	HP:0001263	Global developmental delay	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0012759	HP:0002187	Intellectual disability, profound	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0001263	Global developmental delay	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0012759	HP:0001270	Motor delay	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.		63
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012759	HP:0001263	Global developmental delay	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001270	Motor delay	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0012759	HP:0001263	Global developmental delay	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0012759	HP:0001270	Motor delay	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0012759	HP:0001270	Motor delay	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0012759	HP:0001270	Motor delay	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	HP:0040284 - Very rare		1
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	HP:0040284 - Very rare		1
HP:0012759	HP:0001270	Motor delay	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012759	HP:0001270	Motor delay	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012759	HP:0001263	Global developmental delay	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0012759	HP:0001263	Global developmental delay	2	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		274
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		274
HP:0012759	HP:0001263	Global developmental delay	2	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		274
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		274
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0012759	HP:0010522	Dyslexia	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent		255
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare		255
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0012759	HP:0001263	Global developmental delay	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012759	HP:0001263	Global developmental delay	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0012759	HP:0001263	Global developmental delay	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0001263	Global developmental delay	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0001263	Global developmental delay	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040281 - Very frequent		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent		71
HP:0012759	HP:0001270	Motor delay	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012759	HP:0001263	Global developmental delay	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0012759	HP:0001270	Motor delay	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0001263	Global developmental delay	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001270	Motor delay	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0012759	HP:0001263	Global developmental delay	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0012759	HP:0001263	Global developmental delay	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	HP:0040283 - Occasional		5
HP:0012759	HP:0001263	Global developmental delay	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0012759	HP:0001270	Motor delay	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0012759	HP:0002187	Intellectual disability, profound	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0012759	HP:0001263	Global developmental delay	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0012759	HP:0002187	Intellectual disability, profound	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0012759	HP:0001263	Global developmental delay	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.		2
HP:0012759	HP:0001263	Global developmental delay	2	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0012759	HP:0001263	Global developmental delay	2	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent		101
HP:0012759	HP:0001263	Global developmental delay	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0012759	HP:0001270	Motor delay	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0012759	HP:0001270	Motor delay	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional		12
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0012759	HP:0001270	Motor delay	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0012759	HP:0001270	Motor delay	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040281 - Very frequent		122
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040281 - Very frequent		122
HP:0012759	HP:0001263	Global developmental delay	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0012759	HP:0001270	Motor delay	2	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0012759	HP:0001263	Global developmental delay	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0012759	HP:0002187	Intellectual disability, profound	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0001263	Global developmental delay	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0012759	HP:0010864	Intellectual disability, severe	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0012759	HP:0000750	Delayed speech and language development	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0012759	HP:0001270	Motor delay	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0012759	HP:0001263	Global developmental delay	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0012759	HP:0001263	Global developmental delay	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0012759	HP:0001263	Global developmental delay	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0012759	HP:0000750	Delayed speech and language development	2	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7	.		33
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0001263	Global developmental delay	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0001270	Motor delay	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0012759	HP:0001256	Intellectual disability, mild	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0012759	HP:0001270	Motor delay	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0001263	Global developmental delay	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0012759	HP:0001263	Global developmental delay	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0012759	HP:0001263	Global developmental delay	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0012759	HP:0001263	Global developmental delay	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012759	HP:0001270	Motor delay	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0012759	HP:0001263	Global developmental delay	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0012759	HP:0001263	Global developmental delay	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	HP:0040284 - Very rare		1
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0001263	Global developmental delay	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0001270	Motor delay	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0001263	Global developmental delay	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0012759	HP:0000750	Delayed speech and language development	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0001263	Global developmental delay	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0001256	Intellectual disability, mild	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0012759	HP:0001263	Global developmental delay	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0012759	HP:0001270	Motor delay	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0012759	HP:0001263	Global developmental delay	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0012759	HP:0000750	Delayed speech and language development	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0001263	Global developmental delay	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0001270	Motor delay	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0000750	Delayed speech and language development	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0012759	HP:0001263	Global developmental delay	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0012759	HP:0001263	Global developmental delay	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0012759	HP:0000750	Delayed speech and language development	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0012759	HP:0001263	Global developmental delay	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.		22
HP:0012759	HP:0000750	Delayed speech and language development	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0012759	HP:0010864	Intellectual disability, severe	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0012759	HP:0001270	Motor delay	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0012759	HP:0001263	Global developmental delay	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012759	HP:0001263	Global developmental delay	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012759	HP:0001263	Global developmental delay	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0012759	HP:0000750	Delayed speech and language development	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0012759	HP:0001256	Intellectual disability, mild	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0012759	HP:0002187	Intellectual disability, profound	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0012759	HP:0001263	Global developmental delay	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0012759	HP:0001270	Motor delay	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0012759	HP:0001270	Motor delay	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent		94
HP:0012759	HP:0001263	Global developmental delay	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.		94
HP:0012759	HP:0010864	Intellectual disability, severe	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	.		94
HP:0012759	HP:0001263	Global developmental delay	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0012759	HP:0000750	Delayed speech and language development	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0000750	Delayed speech and language development	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001270	Motor delay	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012759	HP:0001263	Global developmental delay	2	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0012759	HP:0001263	Global developmental delay	2	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.		6
HP:0012759	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0012759	HP:0001270	Motor delay	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0010864	Intellectual disability, severe	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0012759	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0012759	HP:0001270	Motor delay	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0012759	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.		37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0012759	HP:0001256	Intellectual disability, mild	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		37
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0012759	HP:0001256	Intellectual disability, mild	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0012759	HP:0001256	Intellectual disability, mild	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0012759	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0012759	HP:0001256	Intellectual disability, mild	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0012759	HP:0001263	Global developmental delay	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0012759	HP:0010864	Intellectual disability, severe	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0012759	HP:0000750	Delayed speech and language development	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012759	HP:0001270	Motor delay	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012759	HP:0010864	Intellectual disability, severe	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0001263	Global developmental delay	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0012759	HP:0001270	Motor delay	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0012434	Delayed social development	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0000750	Delayed speech and language development	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0012759	HP:0001263	Global developmental delay	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0012759	HP:0010864	Intellectual disability, severe	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0012759	HP:0000750	Delayed speech and language development	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012759	HP:0001263	Global developmental delay	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040281 - Very frequent		12
HP:0012759	HP:0010864	Intellectual disability, severe	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0001270	Motor delay	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0010864	Intellectual disability, severe	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0001263	Global developmental delay	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0012759	HP:0001263	Global developmental delay	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012759	HP:0001263	Global developmental delay	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0012759	HP:0001263	Global developmental delay	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0012759	HP:0000750	Delayed speech and language development	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0010864	Intellectual disability, severe	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001256	Intellectual disability, mild	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0012759	HP:0001263	Global developmental delay	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0001263	Global developmental delay	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0012759	HP:0001263	Global developmental delay	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0012759	HP:0001263	Global developmental delay	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0012759	HP:0001256	Intellectual disability, mild	2	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.		24
HP:0012759	HP:0001263	Global developmental delay	2	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.		24
HP:0012759	HP:0001263	Global developmental delay	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0012759	HP:0001263	Global developmental delay	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0012759	HP:0000750	Delayed speech and language development	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040281 - Very frequent		11
HP:0012759	HP:0001270	Motor delay	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040280 - Obligate		11
HP:0012759	HP:0000750	Delayed speech and language development	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0012759	HP:0001263	Global developmental delay	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0012759	HP:0001263	Global developmental delay	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0012759	HP:0001263	Global developmental delay	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0012759	HP:0001270	Motor delay	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0012759	HP:0000750	Delayed speech and language development	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0012759	HP:0000750	Delayed speech and language development	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0012759	HP:0001270	Motor delay	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0012759	HP:0001263	Global developmental delay	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0012759	HP:0001270	Motor delay	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0012759	HP:0001256	Intellectual disability, mild	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0012759	HP:0001263	Global developmental delay	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0012759	HP:0001270	Motor delay	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0012759	HP:0000750	Delayed speech and language development	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012759	HP:0001263	Global developmental delay	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0012759	HP:0010864	Intellectual disability, severe	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0012759	HP:0000750	Delayed speech and language development	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0001263	Global developmental delay	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0010864	Intellectual disability, severe	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012759	HP:0001263	Global developmental delay	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		48
HP:0012759	HP:0001263	Global developmental delay	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0012759	HP:0012434	Delayed social development	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0012759	HP:0001263	Global developmental delay	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0012759	HP:0000750	Delayed speech and language development	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0012759	HP:0000750	Delayed speech and language development	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0012759	HP:0001256	Intellectual disability, mild	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0012759	HP:0001270	Motor delay	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0012759	HP:0001270	Motor delay	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0012759	HP:0000750	Delayed speech and language development	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0001263	Global developmental delay	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0001270	Motor delay	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent		287
HP:0012759	HP:0001263	Global developmental delay	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0012759	HP:0001270	Motor delay	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012759	HP:0001263	Global developmental delay	2	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0012759	HP:0001270	Motor delay	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0012759	HP:0001263	Global developmental delay	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0012759	HP:0001263	Global developmental delay	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent		100
HP:0012759	HP:0000750	Delayed speech and language development	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0001263	Global developmental delay	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0001270	Motor delay	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0000750	Delayed speech and language development	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0001270	Motor delay	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0000750	Delayed speech and language development	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0012759	HP:0001270	Motor delay	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0012759	HP:0001263	Global developmental delay	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0012759	HP:0000750	Delayed speech and language development	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0012759	HP:0001270	Motor delay	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0012759	HP:0001256	Intellectual disability, mild	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012759	HP:0001263	Global developmental delay	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012759	HP:0002187	Intellectual disability, profound	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0012759	HP:0010864	Intellectual disability, severe	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0012759	HP:0000750	Delayed speech and language development	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001263	Global developmental delay	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001270	Motor delay	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0010522	Dyslexia	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0000750	Delayed speech and language development	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0012759	HP:0001256	Intellectual disability, mild	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0012759	HP:0001263	Global developmental delay	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0012759	HP:0001263	Global developmental delay	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	HP:0040283 - Occasional		126
HP:0012759	HP:0000750	Delayed speech and language development	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.		126
HP:0012759	HP:0001263	Global developmental delay	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.		126
HP:0012759	HP:0000750	Delayed speech and language development	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0001263	Global developmental delay	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.		3
HP:0012759	HP:0001270	Motor delay	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0010864	Intellectual disability, severe	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0001263	Global developmental delay	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0012759	HP:0001270	Motor delay	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012759	HP:0002442	Dyscalculia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0012759	HP:0010522	Dyslexia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0012759	HP:0002442	Dyscalculia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0012759	HP:0000750	Delayed speech and language development	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0012759	HP:0000750	Delayed speech and language development	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0000750	Delayed speech and language development	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001256	Intellectual disability, mild	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001270	Motor delay	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0012759	HP:0001263	Global developmental delay	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0012759	HP:0001270	Motor delay	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0012759	HP:0001270	Motor delay	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0012759	HP:0010864	Intellectual disability, severe	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0012759	HP:0001263	Global developmental delay	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent		80
HP:0012759	HP:0001263	Global developmental delay	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0012759	HP:0001256	Intellectual disability, mild	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0012759	HP:0001263	Global developmental delay	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0012759	HP:0000750	Delayed speech and language development	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0012759	HP:0001263	Global developmental delay	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0012759	HP:0006889	Intellectual disability, borderline	2	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		50
HP:0012759	HP:0001256	Intellectual disability, mild	2	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	.		50
HP:0012759	HP:0000750	Delayed speech and language development	2	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		50
HP:0012759	HP:0001256	Intellectual disability, mild	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0012759	HP:0002442	Dyscalculia	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0012759	HP:0001263	Global developmental delay	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0012759	HP:0001263	Global developmental delay	2	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040280 - Obligate		12
HP:0012759	HP:0001263	Global developmental delay	2	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.		41
HP:0012759	HP:0002187	Intellectual disability, profound	2	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.		41
HP:0012759	HP:0000750	Delayed speech and language development	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0012759	HP:0001263	Global developmental delay	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0012759	HP:0006834	Developmental stagnation at onset of seizures	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0012759	HP:0001270	Motor delay	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0012759	HP:0001256	Intellectual disability, mild	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare		14
HP:0012759	HP:0001270	Motor delay	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0012759	HP:0001263	Global developmental delay	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0012759	HP:0001263	Global developmental delay	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0010864	Intellectual disability, severe	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0012759	HP:0000750	Delayed speech and language development	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0001263	Global developmental delay	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0012759	HP:0000750	Delayed speech and language development	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0012759	HP:0001263	Global developmental delay	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0012759	HP:0001270	Motor delay	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0012759	HP:0000750	Delayed speech and language development	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0001263	Global developmental delay	2	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0002342	Intellectual disability, moderate	2	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0012759	HP:0001263	Global developmental delay	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012759	HP:0001263	Global developmental delay	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0012759	HP:0001270	Motor delay	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0012759	HP:0010864	Intellectual disability, severe	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		110
HP:0012759	HP:0001263	Global developmental delay	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0012759	HP:0001263	Global developmental delay	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0012759	HP:0010864	Intellectual disability, severe	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0001263	Global developmental delay	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0010864	Intellectual disability, severe	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0012759	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0012759	HP:0010522	Dyslexia	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0012759	HP:0000750	Delayed speech and language development	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0012759	HP:0002187	Intellectual disability, profound	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0012759	HP:0000750	Delayed speech and language development	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0012759	HP:0001263	Global developmental delay	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0012759	HP:0000750	Delayed speech and language development	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0012759	HP:0001263	Global developmental delay	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040282 - Frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0012759	HP:0000750	Delayed speech and language development	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0012759	HP:0001270	Motor delay	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0012759	HP:0001263	Global developmental delay	2	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0012759	HP:0001263	Global developmental delay	2	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0012759	HP:0001263	Global developmental delay	2	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0012759	HP:0001263	Global developmental delay	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0012759	HP:0001263	Global developmental delay	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012759	HP:0001263	Global developmental delay	2	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	HP:0040283 - Occasional		9
HP:0012759	HP:0001263	Global developmental delay	2	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0012759	HP:0000750	Delayed speech and language development	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0012759	HP:0001270	Motor delay	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0012759	HP:0010864	Intellectual disability, severe	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent		237
HP:0012759	HP:0000750	Delayed speech and language development	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0001263	Global developmental delay	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0002187	Intellectual disability, profound	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012759	HP:0010864	Intellectual disability, severe	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0012759	HP:0001263	Global developmental delay	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0012759	HP:0001270	Motor delay	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0012759	HP:0001263	Global developmental delay	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0012759	HP:0001270	Motor delay	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0012759	HP:0006887	Intellectual disability, progressive	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0012759	HP:0001263	Global developmental delay	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040281 - Very frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0001270	Motor delay	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0010864	Intellectual disability, severe	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0001270	Motor delay	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0012759	HP:0001263	Global developmental delay	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0012759	HP:0001256	Intellectual disability, mild	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0012759	HP:0001263	Global developmental delay	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0012759	HP:0001263	Global developmental delay	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0012759	HP:0001263	Global developmental delay	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0012759	HP:0001263	Global developmental delay	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0012759	HP:0000750	Delayed speech and language development	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0001263	Global developmental delay	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.		40
HP:0012759	HP:0010864	Intellectual disability, severe	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0000750	Delayed speech and language development	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0001263	Global developmental delay	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0001270	Motor delay	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0001263	Global developmental delay	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0012759	HP:0001263	Global developmental delay	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0012759	HP:0010864	Intellectual disability, severe	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0012759	HP:0001263	Global developmental delay	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012759	HP:0001270	Motor delay	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012759	HP:0001263	Global developmental delay	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0012759	HP:0001263	Global developmental delay	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012759	HP:0001270	Motor delay	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012759	HP:0001256	Intellectual disability, mild	2	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50	.		58
HP:0012759	HP:0001270	Motor delay	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0012759	HP:0001270	Motor delay	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent		1129
HP:0012759	HP:0001270	Motor delay	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0012759	HP:0001263	Global developmental delay	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0012759	HP:0001270	Motor delay	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0012759	HP:0000750	Delayed speech and language development	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0012759	HP:0001263	Global developmental delay	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0012759	HP:0000750	Delayed speech and language development	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0001263	Global developmental delay	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0000750	Delayed speech and language development	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0012759	HP:0001263	Global developmental delay	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0012759	HP:0002342	Intellectual disability, moderate	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0010864	Intellectual disability, severe	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0002187	Intellectual disability, profound	2	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0012759	HP:0000750	Delayed speech and language development	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0012759	HP:0001263	Global developmental delay	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0012759	HP:0001270	Motor delay	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0012759	HP:0000750	Delayed speech and language development	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0012759	HP:0001270	Motor delay	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.		4
HP:0012759	HP:0001270	Motor delay	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0012759	HP:0001270	Motor delay	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.		123
HP:0012759	HP:0000750	Delayed speech and language development	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0012759	HP:0001263	Global developmental delay	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0012759	HP:0001256	Intellectual disability, mild	2	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	HP:0040283 - Occasional		6
HP:0012759	HP:0001263	Global developmental delay	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0012759	HP:0010864	Intellectual disability, severe	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0012759	HP:0000750	Delayed speech and language development	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0001263	Global developmental delay	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0001270	Motor delay	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0000750	Delayed speech and language development	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0001270	Motor delay	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0012759	HP:0001263	Global developmental delay	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0012759	HP:0010864	Intellectual disability, severe	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0012759	HP:0001263	Global developmental delay	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012759	HP:0001263	Global developmental delay	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0012759	HP:0001263	Global developmental delay	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0012759	HP:0000750	Delayed speech and language development	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0001263	Global developmental delay	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0001270	Motor delay	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0001263	Global developmental delay	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012759	HP:0001270	Motor delay	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0012759	HP:0001263	Global developmental delay	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional		34
HP:0012759	HP:0000750	Delayed speech and language development	2	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0001270	Motor delay	2	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0012759	HP:0000750	Delayed speech and language development	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012759	HP:0001263	Global developmental delay	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012759	HP:0000750	Delayed speech and language development	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0001263	Global developmental delay	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent		12
HP:0012759	HP:0001270	Motor delay	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012759	HP:0000750	Delayed speech and language development	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0001263	Global developmental delay	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0001270	Motor delay	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012759	HP:0002442	Dyscalculia	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0012759	HP:0001263	Global developmental delay	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.		28
HP:0012759	HP:0001263	Global developmental delay	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0012759	HP:0010864	Intellectual disability, severe	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0012759	HP:0000750	Delayed speech and language development	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0002187	Intellectual disability, profound	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0010864	Intellectual disability, severe	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0000750	Delayed speech and language development	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0012759	HP:0010864	Intellectual disability, severe	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0012759	HP:0000750	Delayed speech and language development	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0001256	Intellectual disability, mild	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0001270	Motor delay	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0006889	Intellectual disability, borderline	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040283 - Occasional		271
HP:0012759	HP:0001256	Intellectual disability, mild	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0012759	HP:0002187	Intellectual disability, profound	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001256	Intellectual disability, mild	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0012759	HP:0000750	Delayed speech and language development	2	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0012759	HP:0001263	Global developmental delay	2	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012759	HP:0001263	Global developmental delay	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0002187	Intellectual disability, profound	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0012759	HP:0000750	Delayed speech and language development	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0001263	Global developmental delay	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0001263	Global developmental delay	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent		52
HP:0012759	HP:0000750	Delayed speech and language development	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0001263	Global developmental delay	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0000750	Delayed speech and language development	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0001263	Global developmental delay	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0000750	Delayed speech and language development	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0012759	HP:0002442	Dyscalculia	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0012759	HP:0001263	Global developmental delay	2	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0012759	HP:0000750	Delayed speech and language development	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0012759	HP:0000750	Delayed speech and language development	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0012759	HP:0001263	Global developmental delay	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0012759	HP:0001263	Global developmental delay	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0012759	HP:0001263	Global developmental delay	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.		1
HP:0012759	HP:0001263	Global developmental delay	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.		1
HP:0012759	HP:0001270	Motor delay	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0001256	Intellectual disability, mild	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0001263	Global developmental delay	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0000750	Delayed speech and language development	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0001263	Global developmental delay	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0000750	Delayed speech and language development	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0012759	HP:0001263	Global developmental delay	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0012759	HP:0001263	Global developmental delay	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0012759	HP:0000750	Delayed speech and language development	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0001263	Global developmental delay	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0012759	HP:0001263	Global developmental delay	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional		28
HP:0012759	HP:0010522	Dyslexia	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0012759	HP:0000750	Delayed speech and language development	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0012759	HP:0001263	Global developmental delay	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0012759	HP:0001270	Motor delay	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0012759	HP:0000750	Delayed speech and language development	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0012759	HP:0001263	Global developmental delay	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0012759	HP:0001270	Motor delay	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0012759	HP:0006887	Intellectual disability, progressive	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0012759	HP:0010864	Intellectual disability, severe	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0012759	HP:0001263	Global developmental delay	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0012759	HP:0001263	Global developmental delay	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0012759	HP:0001263	Global developmental delay	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0012759	HP:0000750	Delayed speech and language development	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0012759	HP:0001263	Global developmental delay	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0012759	HP:0001263	Global developmental delay	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0012759	HP:0001263	Global developmental delay	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0012759	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0012759	HP:0001263	Global developmental delay	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0012759	HP:0001263	Global developmental delay	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0012759	HP:0000750	Delayed speech and language development	2	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.		17
HP:0012759	HP:0000750	Delayed speech and language development	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0012759	HP:0001263	Global developmental delay	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0012759	HP:0010864	Intellectual disability, severe	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040281 - Very frequent		12
HP:0012759	HP:0000750	Delayed speech and language development	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0012759	HP:0001263	Global developmental delay	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0012759	HP:0001263	Global developmental delay	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0012759	HP:0000750	Delayed speech and language development	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0012759	HP:0001270	Motor delay	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0012759	HP:0001263	Global developmental delay	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0012759	HP:0001263	Global developmental delay	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0012759	HP:0001263	Global developmental delay	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0012759	HP:0001263	Global developmental delay	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0012759	HP:0001263	Global developmental delay	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0012759	HP:0000750	Delayed speech and language development	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0001263	Global developmental delay	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0001270	Motor delay	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0001256	Intellectual disability, mild	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0012759	HP:0001256	Intellectual disability, mild	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0012759	HP:0001263	Global developmental delay	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional		104
HP:0012759	HP:0001263	Global developmental delay	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0012759	HP:0000750	Delayed speech and language development	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0001263	Global developmental delay	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0010864	Intellectual disability, severe	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0001270	Motor delay	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012759	HP:0001263	Global developmental delay	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0012759	HP:0001263	Global developmental delay	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012759	HP:0001270	Motor delay	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0012759	HP:0001263	Global developmental delay	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0012759	HP:0001263	Global developmental delay	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0012759	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012759	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0012759	HP:0000750	Delayed speech and language development	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0012759	HP:0001256	Intellectual disability, mild	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional		80
HP:0012759	HP:0001270	Motor delay	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0012759	HP:0000750	Delayed speech and language development	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.		80
HP:0012759	HP:0001270	Motor delay	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.		80
HP:0012759	HP:0001256	Intellectual disability, mild	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0012759	HP:0001270	Motor delay	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0012759	HP:0000750	Delayed speech and language development	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0012759	HP:0000750	Delayed speech and language development	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001256	Intellectual disability, mild	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0002342	Intellectual disability, moderate	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0010864	Intellectual disability, severe	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0001263	Global developmental delay	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.		161
HP:0012759	HP:0000750	Delayed speech and language development	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0012759	HP:0001263	Global developmental delay	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0012759	HP:0000750	Delayed speech and language development	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012759	HP:0001263	Global developmental delay	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012759	HP:0000750	Delayed speech and language development	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012759	HP:0001270	Motor delay	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0001263	Global developmental delay	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0012759	HP:0001270	Motor delay	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0012759	HP:0001263	Global developmental delay	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0012759	HP:0001263	Global developmental delay	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0012759	HP:0000750	Delayed speech and language development	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0012759	HP:0001263	Global developmental delay	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0012759	HP:0001263	Global developmental delay	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0012759	HP:0001270	Motor delay	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012759	HP:0006887	Intellectual disability, progressive	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0012759	HP:0001270	Motor delay	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0012759	HP:0000750	Delayed speech and language development	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012759	HP:0001263	Global developmental delay	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012759	HP:0001270	Motor delay	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012759	HP:0000750	Delayed speech and language development	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0012759	HP:0001263	Global developmental delay	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0012759	HP:0000750	Delayed speech and language development	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0012759	HP:0001256	Intellectual disability, mild	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040281 - Very frequent		4
HP:0012759	HP:0000750	Delayed speech and language development	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0012759	HP:0001263	Global developmental delay	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0012759	HP:0001270	Motor delay	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0012759	HP:0001263	Global developmental delay	2	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0012759	HP:0000750	Delayed speech and language development	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0012759	HP:0001270	Motor delay	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0012759	HP:0002442	Dyscalculia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0012759	HP:0010522	Dyslexia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0012759	HP:0001263	Global developmental delay	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0001270	Motor delay	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0010522	Dyslexia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0012759	HP:0001263	Global developmental delay	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0012759	HP:0001270	Motor delay	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0012759	HP:0010864	Intellectual disability, severe	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0012759	HP:0001263	Global developmental delay	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		39
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0001270	Motor delay	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0001263	Global developmental delay	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0012759	HP:0001263	Global developmental delay	2	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP	HP:0040283 - Occasional		4
HP:0012759	HP:0001263	Global developmental delay	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0012759	HP:0001263	Global developmental delay	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		45
HP:0012759	HP:0001263	Global developmental delay	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0012759	HP:0001263	Global developmental delay	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0001263	Global developmental delay	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0001270	Motor delay	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0012759	HP:0001263	Global developmental delay	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0012759	HP:0001263	Global developmental delay	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		33
HP:0012759	HP:0010864	Intellectual disability, severe	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0012759	HP:0001263	Global developmental delay	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0012759	HP:0010864	Intellectual disability, severe	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0012759	HP:0001263	Global developmental delay	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0012759	HP:0001263	Global developmental delay	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012759	HP:0001263	Global developmental delay	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0012759	HP:0001270	Motor delay	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0012759	HP:0001263	Global developmental delay	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012759	HP:0001270	Motor delay	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0001256	Intellectual disability, mild	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0001270	Motor delay	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0001263	Global developmental delay	2	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0012759	HP:0001263	Global developmental delay	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012759	HP:0001263	Global developmental delay	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0012759	HP:0001263	Global developmental delay	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0012759	HP:0001263	Global developmental delay	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0012759	HP:0001263	Global developmental delay	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0012759	HP:0000750	Delayed speech and language development	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0012759	HP:0001263	Global developmental delay	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0012759	HP:0001270	Motor delay	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	HP:0040283 - Occasional		10
HP:0012759	HP:0000750	Delayed speech and language development	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0001263	Global developmental delay	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0012759	HP:0001270	Motor delay	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0012434	Delayed social development	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0001263	Global developmental delay	2	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0012759	HP:0010864	Intellectual disability, severe	2	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0012759	HP:0001263	Global developmental delay	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0012759	HP:0001270	Motor delay	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0012759	HP:0001270	Motor delay	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional		44
HP:0012759	HP:0000750	Delayed speech and language development	2	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.		2
HP:0012759	HP:0001270	Motor delay	2	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0012759	HP:0001270	Motor delay	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0012759	HP:0000750	Delayed speech and language development	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0001263	Global developmental delay	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0001270	Motor delay	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0012759	HP:0000750	Delayed speech and language development	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012759	HP:0001263	Global developmental delay	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012759	HP:0001270	Motor delay	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012759	HP:0000750	Delayed speech and language development	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0001263	Global developmental delay	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0001270	Motor delay	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0001263	Global developmental delay	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0012759	HP:0000750	Delayed speech and language development	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0012759	HP:0001263	Global developmental delay	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0012759	HP:0001263	Global developmental delay	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0012759	HP:0001263	Global developmental delay	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0012759	HP:0001263	Global developmental delay	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012759	HP:0006889	Intellectual disability, borderline	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0012759	HP:0006887	Intellectual disability, progressive	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0012759	HP:0001263	Global developmental delay	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	HP:0040284 - Very rare
HP:0012759	HP:0001263	Global developmental delay	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0012759	HP:0000750	Delayed speech and language development	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0001263	Global developmental delay	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0010864	Intellectual disability, severe	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0001270	Motor delay	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0012759	HP:0001263	Global developmental delay	2	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0012759	HP:0001263	Global developmental delay	2	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0012759	HP:0001263	Global developmental delay	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0012759	HP:0000750	Delayed speech and language development	2	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0012759	HP:0001263	Global developmental delay	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0012759	HP:0000750	Delayed speech and language development	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012759	HP:0001263	Global developmental delay	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	HP:0040283 - Occasional		21
HP:0012759	HP:0001270	Motor delay	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0001270	Motor delay	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0001270	Motor delay	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0012759	HP:0001270	Motor delay	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0012759	HP:0001270	Motor delay	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0001270	Motor delay	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0001270	Motor delay	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0001270	Motor delay	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0012759	HP:0001270	Motor delay	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0012759	HP:0000750	Delayed speech and language development	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0012759	HP:0001263	Global developmental delay	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0012759	HP:0001263	Global developmental delay	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012759	HP:0001263	Global developmental delay	2	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0012759	HP:0000750	Delayed speech and language development	2	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79	.	HP:0011463 - Childhood onset	32
HP:0012759	HP:0001263	Global developmental delay	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0012759	HP:0001263	Global developmental delay	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0012759	HP:0001263	Global developmental delay	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0012759	HP:0001263	Global developmental delay	2	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0012759	HP:0001263	Global developmental delay	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0001270	Motor delay	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0012759	HP:0006889	Intellectual disability, borderline	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0012759	HP:0002187	Intellectual disability, profound	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0012759	HP:0033044	Motor regression	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0012759	HP:0001270	Motor delay	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0012759	HP:0000750	Delayed speech and language development	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0001263	Global developmental delay	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0001270	Motor delay	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0002442	Dyscalculia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0012759	HP:0010522	Dyslexia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0012759	HP:0010522	Dyslexia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0012759	HP:0001263	Global developmental delay	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		56
HP:0012759	HP:0002187	Intellectual disability, profound	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		56
HP:0012759	HP:0000750	Delayed speech and language development	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0001263	Global developmental delay	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0002187	Intellectual disability, profound	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0012759	HP:0001270	Motor delay	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012759	HP:0001263	Global developmental delay	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0001263	Global developmental delay	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0001270	Motor delay	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0001263	Global developmental delay	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0001270	Motor delay	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0012759	HP:0001270	Motor delay	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0006889	Intellectual disability, borderline	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0001270	Motor delay	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0012759	HP:0001263	Global developmental delay	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0012759	HP:0001270	Motor delay	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0012759	HP:0001263	Global developmental delay	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	HP:0040284 - Very rare		2
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0012759	HP:0001270	Motor delay	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0001270	Motor delay	2	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0012759	HP:0001263	Global developmental delay	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0012759	HP:0000750	Delayed speech and language development	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0001263	Global developmental delay	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0012759	HP:0001270	Motor delay	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0000750	Delayed speech and language development	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0012759	HP:0001263	Global developmental delay	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0012759	HP:0001270	Motor delay	2	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0012759	HP:0001263	Global developmental delay	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012759	HP:0001270	Motor delay	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.		7
HP:0012759	HP:0001263	Global developmental delay	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0001263	Global developmental delay	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0012759	HP:0001270	Motor delay	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012759	HP:0001270	Motor delay	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012759	HP:0001263	Global developmental delay	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0001270	Motor delay	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0001270	Motor delay	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012759	HP:0001256	Intellectual disability, mild	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012759	HP:0001263	Global developmental delay	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012759	HP:0001270	Motor delay	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012759	HP:0001263	Global developmental delay	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001263	Global developmental delay	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0001270	Motor delay	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012759	HP:0010794	Impaired visuospatial constructive cognition	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012759	HP:0001270	Motor delay	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0012759	HP:0000750	Delayed speech and language development	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	HP:0040284 - Very rare		4
HP:0012759	HP:0001270	Motor delay	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0012759	HP:0000750	Delayed speech and language development	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0012759	HP:0001263	Global developmental delay	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0012759	HP:0001270	Motor delay	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0001263	Global developmental delay	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0012759	HP:0001270	Motor delay	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0012759	HP:0000750	Delayed speech and language development	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0001263	Global developmental delay	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0001270	Motor delay	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional		3
HP:0012759	HP:0001263	Global developmental delay	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0012759	HP:0001270	Motor delay	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0012759	HP:0001263	Global developmental delay	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0012759	HP:0001270	Motor delay	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0012759	HP:0001263	Global developmental delay	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0012759	HP:0001270	Motor delay	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0012759	HP:0001263	Global developmental delay	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0012759	HP:0001263	Global developmental delay	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0012759	HP:0001263	Global developmental delay	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0012759	HP:0006887	Intellectual disability, progressive	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0012759	HP:0010864	Intellectual disability, severe	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0012759	HP:0001263	Global developmental delay	2	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		97
HP:0012759	HP:0010864	Intellectual disability, severe	2	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		97
HP:0012759	HP:0001270	Motor delay	2	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040282 - Frequent		97
HP:0012759	HP:0001263	Global developmental delay	2	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent		97
HP:0012759	HP:0001270	Motor delay	2	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent		97
HP:0012759	HP:0000750	Delayed speech and language development	2	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0012759	HP:0001270	Motor delay	2	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0012759	HP:0001263	Global developmental delay	2	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		97
HP:0012759	HP:0010864	Intellectual disability, severe	2	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		97
HP:0012759	HP:0001256	Intellectual disability, mild	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0001263	Global developmental delay	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012759	HP:0001270	Motor delay	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0000750	Delayed speech and language development	2	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0012759	HP:0000750	Delayed speech and language development	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0012759	HP:0001256	Intellectual disability, mild	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional		2
HP:0012759	HP:0001270	Motor delay	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0012759	HP:0001263	Global developmental delay	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional		88
HP:0012759	HP:0001263	Global developmental delay	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012759	HP:0000750	Delayed speech and language development	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0001270	Motor delay	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0001263	Global developmental delay	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0012759	HP:0000750	Delayed speech and language development	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0012759	HP:0001263	Global developmental delay	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0012759	HP:0001270	Motor delay	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0010864	Intellectual disability, severe	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0000750	Delayed speech and language development	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0012759	HP:0001263	Global developmental delay	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0012759	HP:0010864	Intellectual disability, severe	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0000750	Delayed speech and language development	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0012759	HP:0001256	Intellectual disability, mild	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0012759	HP:0001270	Motor delay	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0012759	HP:0001270	Motor delay	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0012759	HP:0001270	Motor delay	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0012759	HP:0001270	Motor delay	2	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.		106
HP:0012759	HP:0010864	Intellectual disability, severe	2	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.		106
HP:0012759	HP:0001263	Global developmental delay	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0012759	HP:0001263	Global developmental delay	2	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0012759	HP:0001263	Global developmental delay	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0012759	HP:0001270	Motor delay	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	.		23
HP:0012759	HP:0001263	Global developmental delay	2	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0012759	HP:0001270	Motor delay	2	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0012759	HP:0001263	Global developmental delay	2	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040282 - Frequent		39
HP:0012759	HP:0001263	Global developmental delay	2	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0012759	HP:0001263	Global developmental delay	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040281 - Very frequent		64
HP:0012759	HP:0001270	Motor delay	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0012759	HP:0012434	Delayed social development	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0012759	HP:0001263	Global developmental delay	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.		64
HP:0012759	HP:0001263	Global developmental delay	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0012759	HP:0001263	Global developmental delay	2	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012759	HP:0001270	Motor delay	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012759	HP:0001263	Global developmental delay	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001270	Motor delay	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0010522	Dyslexia	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	.		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0012759	HP:0001263	Global developmental delay	2	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0012759	HP:0001263	Global developmental delay	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		66
HP:0012759	HP:0001263	Global developmental delay	2	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0012759	HP:0010864	Intellectual disability, severe	2	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0012759	HP:0002342	Intellectual disability, moderate	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0012759	HP:0001263	Global developmental delay	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0012759	HP:0000750	Delayed speech and language development	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0000750	Delayed speech and language development	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0012759	HP:0001263	Global developmental delay	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0012759	HP:0001263	Global developmental delay	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012759	HP:0001263	Global developmental delay	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012759	HP:0001263	Global developmental delay	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0012759	HP:0000750	Delayed speech and language development	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0012759	HP:0001270	Motor delay	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0012759	HP:0000750	Delayed speech and language development	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0012759	HP:0000750	Delayed speech and language development	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0001263	Global developmental delay	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0012759	HP:0001270	Motor delay	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0012759	HP:0002342	Intellectual disability, moderate	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent		278
HP:0012759	HP:0001263	Global developmental delay	2	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent		278
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0001263	Global developmental delay	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0012759	HP:0001270	Motor delay	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0006887	Intellectual disability, progressive	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0012759	HP:0001256	Intellectual disability, mild	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0012759	HP:0001263	Global developmental delay	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0012759	HP:0001270	Motor delay	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012759	HP:0001263	Global developmental delay	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		278
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0012759	HP:0001263	Global developmental delay	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0001270	Motor delay	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0001263	Global developmental delay	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001263	Global developmental delay	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0012759	HP:0000750	Delayed speech and language development	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0012759	HP:0001263	Global developmental delay	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0012759	HP:0002187	Intellectual disability, profound	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0012759	HP:0010864	Intellectual disability, severe	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	HP:0040284 - Very rare		1
HP:0012759	HP:0002187	Intellectual disability, profound	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0012759	HP:0000750	Delayed speech and language development	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0012759	HP:0001256	Intellectual disability, mild	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0012759	HP:0000750	Delayed speech and language development	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0001263	Global developmental delay	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0001263	Global developmental delay	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0001270	Motor delay	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0000750	Delayed speech and language development	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0001263	Global developmental delay	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0001270	Motor delay	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0002187	Intellectual disability, profound	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0000750	Delayed speech and language development	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0012759	HP:0001263	Global developmental delay	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040281 - Very frequent		135
HP:0012759	HP:0001263	Global developmental delay	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional		135
HP:0012759	HP:0001263	Global developmental delay	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012759	HP:0000750	Delayed speech and language development	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0001263	Global developmental delay	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0002187	Intellectual disability, profound	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0012759	HP:0000750	Delayed speech and language development	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0012759	HP:0001263	Global developmental delay	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0012759	HP:0001270	Motor delay	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0012759	HP:0010864	Intellectual disability, severe	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0012759	HP:0001263	Global developmental delay	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.		44
HP:0012759	HP:0001270	Motor delay	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012759	HP:0001256	Intellectual disability, mild	2	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0012759	HP:0001263	Global developmental delay	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0012759	HP:0001263	Global developmental delay	2	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0012759	HP:0001263	Global developmental delay	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012759	HP:0001270	Motor delay	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012759	HP:0000750	Delayed speech and language development	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012759	HP:0001263	Global developmental delay	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0012759	HP:0010864	Intellectual disability, severe	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0012759	HP:0002342	Intellectual disability, moderate	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0012759	HP:0001263	Global developmental delay	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0012759	HP:0001270	Motor delay	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0012759	HP:0001263	Global developmental delay	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0012759	HP:0000750	Delayed speech and language development	2	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0012759	HP:0001263	Global developmental delay	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0012759	HP:0000750	Delayed speech and language development	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001263	Global developmental delay	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0012759	HP:0001263	Global developmental delay	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0012759	HP:0000750	Delayed speech and language development	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0012759	HP:0001263	Global developmental delay	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0012759	HP:0001263	Global developmental delay	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0012759	HP:0001263	Global developmental delay	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040281 - Very frequent		27
HP:0012759	HP:0002342	Intellectual disability, moderate	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040281 - Very frequent		27
HP:0012759	HP:0000750	Delayed speech and language development	2	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0012759	HP:0001263	Global developmental delay	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0012759	HP:0001270	Motor delay	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0012759	HP:0001270	Motor delay	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0012759	HP:0001263	Global developmental delay	2	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0012759	HP:0000750	Delayed speech and language development	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0012759	HP:0001263	Global developmental delay	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0012759	HP:0001270	Motor delay	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0012759	HP:0002187	Intellectual disability, profound	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0012759	HP:0001263	Global developmental delay	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	HP:0040283 - Occasional		56
HP:0012759	HP:0001263	Global developmental delay	2	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.		5
HP:0012759	HP:0002442	Dyscalculia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0012759	HP:0010522	Dyslexia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0012759	HP:0002442	Dyscalculia	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0012759	HP:0002442	Dyscalculia	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0012759	HP:0001270	Motor delay	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0012759	HP:0001263	Global developmental delay	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0012759	HP:0000750	Delayed speech and language development	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0012759	HP:0001263	Global developmental delay	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0012759	HP:0001270	Motor delay	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional		10
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0012759	HP:0001270	Motor delay	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0012759	HP:0010522	Dyslexia	2	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001256	Intellectual disability, mild	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	HP:0040284 - Very rare
HP:0012759	HP:0001270	Motor delay	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	HP:0040284 - Very rare
HP:0012759	HP:0001256	Intellectual disability, mild	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0012759	HP:0002342	Intellectual disability, moderate	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0001270	Motor delay	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS33B CL E G H	26276	12712	OMIM:620009				63
HP:0012759	HP:0001263	Global developmental delay	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0012759	HP:0001263	Global developmental delay	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0001270	Motor delay	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent		7
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0012759	HP:0001263	Global developmental delay	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0012759	HP:0010522	Dyslexia	2	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0001263	Global developmental delay	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0001270	Motor delay	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0001263	Global developmental delay	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	HP:0040283 - Occasional		7
HP:0012759	HP:0000750	Delayed speech and language development	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0001270	Motor delay	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0001263	Global developmental delay	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012759	HP:0001263	Global developmental delay	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0001270	Motor delay	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0001263	Global developmental delay	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0012759	HP:0002187	Intellectual disability, profound	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E	.		26
HP:0012759	HP:0001263	Global developmental delay	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012759	HP:0001270	Motor delay	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012759	HP:0001256	Intellectual disability, mild	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012759	HP:0001263	Global developmental delay	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0012759	HP:0001270	Motor delay	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012759	HP:0000750	Delayed speech and language development	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0012759	HP:0001263	Global developmental delay	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0012759	HP:0000750	Delayed speech and language development	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0012759	HP:0001263	Global developmental delay	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0012759	HP:0001270	Motor delay	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0012759	HP:0000750	Delayed speech and language development	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent		20
HP:0012759	HP:0001256	Intellectual disability, mild	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040281 - Very frequent		20
HP:0012759	HP:0001263	Global developmental delay	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040281 - Very frequent		20
HP:0012759	HP:0001270	Motor delay	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040281 - Very frequent		20
HP:0012759	HP:0000750	Delayed speech and language development	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012759	HP:0001263	Global developmental delay	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012759	HP:0000750	Delayed speech and language development	2	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0000750	Delayed speech and language development	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012759	HP:0001263	Global developmental delay	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040281 - Very frequent		2
HP:0012759	HP:0002187	Intellectual disability, profound	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0012759	HP:0002342	Intellectual disability, moderate	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0012759	HP:0000750	Delayed speech and language development	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0001270	Motor delay	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0010864	Intellectual disability, severe	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0000750	Delayed speech and language development	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0001263	Global developmental delay	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43	.		25
HP:0012759	HP:0001270	Motor delay	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0002187	Intellectual disability, profound	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0001263	Global developmental delay	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		83
HP:0012759	HP:0001263	Global developmental delay	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0012759	HP:0001263	Global developmental delay	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012759	HP:0001256	Intellectual disability, mild	2	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.		6
HP:0012759	HP:0002342	Intellectual disability, moderate	2	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.		6
HP:0012759	HP:0001263	Global developmental delay	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		10
HP:0012759	HP:0001263	Global developmental delay	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001263	Global developmental delay	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012759	HP:0001270	Motor delay	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0012759	HP:0001263	Global developmental delay	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0012759	HP:0001270	Motor delay	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0012759	HP:0001263	Global developmental delay	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	HP:0040284 - Very rare		136
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0001263	Global developmental delay	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0001263	Global developmental delay	2	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0012759	HP:0001263	Global developmental delay	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0012759	HP:0001270	Motor delay	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0012759	HP:0001263	Global developmental delay	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0012759	HP:0001263	Global developmental delay	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0012759	HP:0001263	Global developmental delay	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0012759	HP:0001263	Global developmental delay	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0012759	HP:0002187	Intellectual disability, profound	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0012759	HP:0001256	Intellectual disability, mild	2	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0012759	HP:0010864	Intellectual disability, severe	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0012759	HP:0001263	Global developmental delay	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0012759	HP:0001270	Motor delay	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0002342	Intellectual disability, moderate	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0010864	Intellectual disability, severe	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0001270	Motor delay	2	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0012759	HP:0001263	Global developmental delay	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0012759	HP:0000750	Delayed speech and language development	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0012759	HP:0001263	Global developmental delay	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0012759	HP:0006887	Intellectual disability, progressive	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0012759	HP:0010864	Intellectual disability, severe	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0012759	HP:0000750	Delayed speech and language development	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0012759	HP:0001263	Global developmental delay	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies	.
HP:0012759	HP:0010864	Intellectual disability, severe	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0012759	HP:0000750	Delayed speech and language development	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0001270	Motor delay	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0012434	Delayed social development	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0001263	Global developmental delay	2	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0012759	HP:0001263	Global developmental delay	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0012759	HP:0001263	Global developmental delay	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0012759	HP:0001263	Global developmental delay	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0012759	HP:0000750	Delayed speech and language development	2	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0012759	HP:0001270	Motor delay	2	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0012759	HP:0001263	Global developmental delay	2	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.		149
HP:0012759	HP:0000750	Delayed speech and language development	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0012759	HP:0001263	Global developmental delay	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0012759	HP:0001263	Global developmental delay	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0012759	HP:0006887	Intellectual disability, progressive	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0012759	HP:0006887	Intellectual disability, progressive	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0012759	HP:0001263	Global developmental delay	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0012759	HP:0001263	Global developmental delay	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		9
HP:0012759	HP:0000750	Delayed speech and language development	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0012759	HP:0001263	Global developmental delay	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0012759	HP:0000750	Delayed speech and language development	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0012759	HP:0001263	Global developmental delay	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0001270	Motor delay	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0002342	Intellectual disability, moderate	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0012759	HP:0000750	Delayed speech and language development	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0001270	Motor delay	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0000750	Delayed speech and language development	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0001263	Global developmental delay	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0001270	Motor delay	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0001263	Global developmental delay	2	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012759	HP:0000750	Delayed speech and language development	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0012759	HP:0001263	Global developmental delay	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0012759	HP:0001263	Global developmental delay	2	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0001263	Global developmental delay	2	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0012759	HP:0000750	Delayed speech and language development	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0001263	Global developmental delay	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0012759	HP:0000750	Delayed speech and language development	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0012759	HP:0000750	Delayed speech and language development	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001256	Intellectual disability, mild	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001263	Global developmental delay	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0012759	HP:0001263	Global developmental delay	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001270	Motor delay	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012759	HP:0001270	Motor delay	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012759	HP:0002342	Intellectual disability, moderate	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0010864	Intellectual disability, severe	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0006889	Intellectual disability, borderline	2	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0012759	HP:0001270	Motor delay	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0012759	HP:0000750	Delayed speech and language development	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0012759	HP:0010864	Intellectual disability, severe	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0012759	HP:0000750	Delayed speech and language development	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0012759	HP:0001270	Motor delay	2	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0012759	HP:0000750	Delayed speech and language development	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0001263	Global developmental delay	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0001270	Motor delay	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0001263	Global developmental delay	2	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0012759	HP:0000750	Delayed speech and language development	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0012759	HP:0001263	Global developmental delay	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0012759	HP:0000750	Delayed speech and language development	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0001263	Global developmental delay	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0001270	Motor delay	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0000750	Delayed speech and language development	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0001270	Motor delay	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0010864	Intellectual disability, severe	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0000750	Delayed speech and language development	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0012759	HP:0001270	Motor delay	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0012759	HP:0000750	Delayed speech and language development	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0012759	HP:0001270	Motor delay	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.		5
HP:0012759	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0012759	HP:0001263	Global developmental delay	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.		34
HP:0012759	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0012759	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0012759	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0012759	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0012759	HP:0000750	Delayed speech and language development	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0001263	Global developmental delay	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0001270	Motor delay	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012759	HP:0000750	Delayed speech and language development	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0001263	Global developmental delay	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012759	HP:0000750	Delayed speech and language development	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0012759	HP:0000750	Delayed speech and language development	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0012759	HP:0001263	Global developmental delay	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0012759	HP:0001270	Motor delay	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0012759	HP:0000750	Delayed speech and language development	2	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0012759	HP:0001263	Global developmental delay	2	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0012759	HP:0001263	Global developmental delay	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0012759	HP:0001270	Motor delay	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012759	HP:0000750	Delayed speech and language development	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0012759	HP:0001263	Global developmental delay	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0012759	HP:0001263	Global developmental delay	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012759	HP:0000750	Delayed speech and language development	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0001263	Global developmental delay	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0001270	Motor delay	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0010864	Intellectual disability, severe	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0012759	HP:0001263	Global developmental delay	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012759	HP:0001270	Motor delay	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0012759	HP:0001263	Global developmental delay	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent		49
HP:0012759	HP:0000750	Delayed speech and language development	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0001256	Intellectual disability, mild	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0001263	Global developmental delay	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0001263	Global developmental delay	2	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012759	HP:0001270	Motor delay	2	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001263	Global developmental delay	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012759	HP:0000750	Delayed speech and language development	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0001270	Motor delay	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0002342	Intellectual disability, moderate	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0012759	HP:0001263	Global developmental delay	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012759	HP:0001263	Global developmental delay	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0002187	Intellectual disability, profound	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012759	HP:0010864	Intellectual disability, severe	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001263	Global developmental delay	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0012759	HP:0001263	Global developmental delay	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0012759	HP:0000750	Delayed speech and language development	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0012759	HP:0001263	Global developmental delay	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0012759	HP:0001270	Motor delay	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0012759	HP:0011342	Mild global developmental delay	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0012759	HP:0002194	Delayed gross motor development	3	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0011342	Mild global developmental delay	3	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0011344	Severe global developmental delay	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0012759	HP:0011342	Mild global developmental delay	3	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		245
HP:0012759	HP:0001344	Absent speech	3	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0012759	HP:0011342	Mild global developmental delay	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0012759	HP:0011344	Severe global developmental delay	3	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012759	HP:0001344	Absent speech	3	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0012759	HP:0011344	Severe global developmental delay	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012759	HP:0011342	Mild global developmental delay	3	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0012759	HP:0001344	Absent speech	3	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0011344	Severe global developmental delay	3	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012759	HP:0001344	Absent speech	3	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0012759	HP:0011344	Severe global developmental delay	3	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0012759	HP:0002194	Delayed gross motor development	3	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0012759	HP:0011344	Severe global developmental delay	3	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0012759	HP:0001344	Absent speech	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0002194	Delayed gross motor development	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0002194	Delayed gross motor development	3	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0012759	HP:0002194	Delayed gross motor development	3	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional		25
HP:0012759	HP:0002194	Delayed gross motor development	3	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0002194	Delayed gross motor development	3	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0011344	Severe global developmental delay	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0012759	HP:0012736	Profound global developmental delay	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0012759	HP:0011342	Mild global developmental delay	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0012759	HP:0011343	Moderate global developmental delay	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0012759	HP:0011344	Severe global developmental delay	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent		47
HP:0012759	HP:0011344	Severe global developmental delay	3	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012759	HP:0001344	Absent speech	3	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0012759	HP:0011344	Severe global developmental delay	3	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0012759	HP:0010863	Receptive language delay	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0012759	HP:0002194	Delayed gross motor development	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0012759	HP:0001344	Absent speech	3	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0012759	HP:0002194	Delayed gross motor development	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0012759	HP:0002474	Expressive language delay	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0012759	HP:0002194	Delayed gross motor development	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0002194	Delayed gross motor development	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0012759	HP:0011343	Moderate global developmental delay	3	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0012759	HP:0011344	Severe global developmental delay	3	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0012759	HP:0001344	Absent speech	3	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0012759	HP:0012736	Profound global developmental delay	3	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012759	HP:0002194	Delayed gross motor development	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0012759	HP:0011342	Mild global developmental delay	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0012759	HP:0001344	Absent speech	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0012759	HP:0011342	Mild global developmental delay	3	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0012759	HP:0011344	Severe global developmental delay	3	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0012759	HP:0001344	Absent speech	3	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0012759	HP:0002194	Delayed gross motor development	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0012759	HP:0011344	Severe global developmental delay	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0012759	HP:0001344	Absent speech	3	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012759	HP:0011344	Severe global developmental delay	3	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0012759	HP:0011344	Severe global developmental delay	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012759	HP:0002194	Delayed gross motor development	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012759	HP:0010863	Receptive language delay	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0012759	HP:0002194	Delayed gross motor development	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012759	HP:0002194	Delayed gross motor development	3	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0012759	HP:0002194	Delayed gross motor development	3	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent		21
HP:0012759	HP:0002194	Delayed gross motor development	3	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0012759	HP:0011342	Mild global developmental delay	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0012759	HP:0001344	Absent speech	3	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0002194	Delayed gross motor development	3	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0011344	Severe global developmental delay	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012759	HP:0002194	Delayed gross motor development	3	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0010862	Delayed fine motor development	3	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0012759	HP:0001344	Absent speech	3	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0012759	HP:0001344	Absent speech	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0012759	HP:0001344	Absent speech	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0012759	HP:0002194	Delayed gross motor development	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0002474	Expressive language delay	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0001344	Absent speech	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0012759	HP:0001344	Absent speech	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0002194	Delayed gross motor development	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0011344	Severe global developmental delay	3	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0012759	HP:0011344	Severe global developmental delay	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040281 - Very frequent		166
HP:0012759	HP:0011344	Severe global developmental delay	3	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012759	HP:0011344	Severe global developmental delay	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0012759	HP:0012736	Profound global developmental delay	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0012759	HP:0001344	Absent speech	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0012759	HP:0011344	Severe global developmental delay	3	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0012759	HP:0012736	Profound global developmental delay	3	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0012759	HP:0011342	Mild global developmental delay	3	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent		48
HP:0012759	HP:0001344	Absent speech	3	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0012759	HP:0002474	Expressive language delay	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012759	HP:0001344	Absent speech	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0012759	HP:0001344	Absent speech	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0002194	Delayed gross motor development	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0011344	Severe global developmental delay	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0002194	Delayed gross motor development	3	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0012759	HP:0001344	Absent speech	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0002194	Delayed gross motor development	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0001344	Absent speech	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012759	HP:0001344	Absent speech	3	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		4
HP:0012759	HP:0002194	Delayed gross motor development	3	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0012759	HP:0002194	Delayed gross motor development	3	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent		4
HP:0012759	HP:0001344	Absent speech	3	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0012759	HP:0011344	Severe global developmental delay	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0002194	Delayed gross motor development	3	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0001344	Absent speech	3	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0012759	HP:0002194	Delayed gross motor development	3	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012759	HP:0011344	Severe global developmental delay	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012759	HP:0011342	Mild global developmental delay	3	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0012759	HP:0011342	Mild global developmental delay	3	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0012736	Profound global developmental delay	3	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent		169
HP:0012759	HP:0010862	Delayed fine motor development	3	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0012759	HP:0011342	Mild global developmental delay	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0012759	HP:0001344	Absent speech	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0002194	Delayed gross motor development	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012759	HP:0001344	Absent speech	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0012759	HP:0002194	Delayed gross motor development	3	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0012759	HP:0002194	Delayed gross motor development	3	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0012759	HP:0002194	Delayed gross motor development	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0012759	HP:0001344	Absent speech	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0012759	HP:0002194	Delayed gross motor development	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0012759	HP:0001344	Absent speech	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012759	HP:0001344	Absent speech	3	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0012759	HP:0002194	Delayed gross motor development	3	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0012759	HP:0002194	Delayed gross motor development	3	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0012759	HP:0002194	Delayed gross motor development	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012759	HP:0011344	Severe global developmental delay	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0012759	HP:0011344	Severe global developmental delay	3	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012759	HP:0001344	Absent speech	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0012759	HP:0001344	Absent speech	3	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0012759	HP:0002194	Delayed gross motor development	3	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0012759	HP:0001344	Absent speech	3	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0012759	HP:0001344	Absent speech	3	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0012759	HP:0012736	Profound global developmental delay	3	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0012759	HP:0002194	Delayed gross motor development	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0012759	HP:0001344	Absent speech	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0012759	HP:0002194	Delayed gross motor development	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0012759	HP:0001344	Absent speech	3	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0012759	HP:0032988	Persistent head lag	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0012759	HP:0001344	Absent speech	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0012759	HP:0002194	Delayed gross motor development	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0010862	Delayed fine motor development	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012759	HP:0001344	Absent speech	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0012759	HP:0001344	Absent speech	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0002194	Delayed gross motor development	3	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0001344	Absent speech	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional		118
HP:0012759	HP:0011344	Severe global developmental delay	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040281 - Very frequent		118
HP:0012759	HP:0001344	Absent speech	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0012759	HP:0002194	Delayed gross motor development	3	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0012759	HP:0001344	Absent speech	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0012759	HP:0011344	Severe global developmental delay	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0012759	HP:0001344	Absent speech	3	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0012759	HP:0001344	Absent speech	3	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0012759	HP:0002194	Delayed gross motor development	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0010862	Delayed fine motor development	3	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012759	HP:0001344	Absent speech	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001344	Absent speech	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0012759	HP:0011342	Mild global developmental delay	3	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0012759	HP:0010862	Delayed fine motor development	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0012759	HP:0011342	Mild global developmental delay	3	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0012759	HP:0002194	Delayed gross motor development	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0010862	Delayed fine motor development	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012759	HP:0002194	Delayed gross motor development	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0012759	HP:0032988	Persistent head lag	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012759	HP:0002194	Delayed gross motor development	3	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0012759	HP:0011344	Severe global developmental delay	3	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0012759	HP:0002194	Delayed gross motor development	3	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0012759	HP:0011343	Moderate global developmental delay	3	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0012759	HP:0011344	Severe global developmental delay	3	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0012759	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		200
HP:0012759	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0002474	Expressive language delay	3	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0012759	HP:0002194	Delayed gross motor development	3	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0011342	Mild global developmental delay	3	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0012759	HP:0001344	Absent speech	3	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0012759	HP:0011342	Mild global developmental delay	3	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0012759	HP:0011342	Mild global developmental delay	3	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0012759	HP:0002194	Delayed gross motor development	3	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0012759	HP:0001344	Absent speech	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0012759	HP:0002194	Delayed gross motor development	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0002194	Delayed gross motor development	3	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0012759	HP:0001344	Absent speech	3	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0002194	Delayed gross motor development	3	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0011344	Severe global developmental delay	3	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012759	HP:0001344	Absent speech	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0012759	HP:0002194	Delayed gross motor development	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0012759	HP:0002194	Delayed gross motor development	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0012759	HP:0002194	Delayed gross motor development	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0012759	HP:0002194	Delayed gross motor development	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0012759	HP:0002194	Delayed gross motor development	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0012759	HP:0001344	Absent speech	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0002194	Delayed gross motor development	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0010862	Delayed fine motor development	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012759	HP:0001344	Absent speech	3	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0002194	Delayed gross motor development	3	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0010862	Delayed fine motor development	3	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0001344	Absent speech	3	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0012759	HP:0002194	Delayed gross motor development	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0012759	HP:0010862	Delayed fine motor development	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0012759	HP:0002194	Delayed gross motor development	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012759	HP:0002194	Delayed gross motor development	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012759	HP:0002194	Delayed gross motor development	3	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0001344	Absent speech	3	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0012759	HP:0001344	Absent speech	3	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0002194	Delayed gross motor development	3	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent		7
HP:0012759	HP:0010862	Delayed fine motor development	3	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent		7
HP:0012759	HP:0001344	Absent speech	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0012759	HP:0002194	Delayed gross motor development	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0012759	HP:0001344	Absent speech	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012759	HP:0001344	Absent speech	3	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012759	HP:0011344	Severe global developmental delay	3	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent		6
HP:0012759	HP:0001344	Absent speech	3	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0002194	Delayed gross motor development	3	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0001344	Absent speech	3	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0012759	HP:0002194	Delayed gross motor development	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0010862	Delayed fine motor development	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0001344	Absent speech	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0002194	Delayed gross motor development	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0010863	Receptive language delay	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0001344	Absent speech	3	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0012759	HP:0002194	Delayed gross motor development	3	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0012759	HP:0011342	Mild global developmental delay	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0012759	HP:0002194	Delayed gross motor development	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0012759	HP:0011342	Mild global developmental delay	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0012759	HP:0001344	Absent speech	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0012759	HP:0001344	Absent speech	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.		67
HP:0012759	HP:0012736	Profound global developmental delay	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0012759	HP:0011344	Severe global developmental delay	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0012759	HP:0001344	Absent speech	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0012759	HP:0002194	Delayed gross motor development	3	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0012759	HP:0002194	Delayed gross motor development	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0012759	HP:0010862	Delayed fine motor development	3	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0012759	HP:0002194	Delayed gross motor development	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0012759	HP:0002194	Delayed gross motor development	3	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0012759	HP:0002194	Delayed gross motor development	3	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.		243
HP:0012759	HP:0002194	Delayed gross motor development	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0012759	HP:0002194	Delayed gross motor development	3	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0012759	HP:0001344	Absent speech	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0002194	Delayed gross motor development	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0011344	Severe global developmental delay	3	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012759	HP:0032988	Persistent head lag	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012759	HP:0001344	Absent speech	3	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0012759	HP:0002194	Delayed gross motor development	3	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0012759	HP:0001344	Absent speech	3	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0002194	Delayed gross motor development	3	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0002194	Delayed gross motor development	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0001344	Absent speech	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0012759	HP:0001344	Absent speech	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0012759	HP:0012736	Profound global developmental delay	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0012759	HP:0001344	Absent speech	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0012759	HP:0002194	Delayed gross motor development	3	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0001344	Absent speech	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0012759	HP:0001344	Absent speech	3	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0012759	HP:0011344	Severe global developmental delay	3	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0012759	HP:0011342	Mild global developmental delay	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0012759	HP:0002194	Delayed gross motor development	3	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0011344	Severe global developmental delay	3	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0012759	HP:0011342	Mild global developmental delay	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012759	HP:0002194	Delayed gross motor development	3	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0012759	HP:0002194	Delayed gross motor development	3	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0001344	Absent speech	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0012759	HP:0001344	Absent speech	3	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0012759	HP:0002194	Delayed gross motor development	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0012759	HP:0002194	Delayed gross motor development	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0011344	Severe global developmental delay	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0012759	HP:0011344	Severe global developmental delay	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0012759	HP:0001344	Absent speech	3	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0012759	HP:0002194	Delayed gross motor development	3	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0012759	HP:0002194	Delayed gross motor development	3	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0012759	HP:0001344	Absent speech	3	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012759	HP:0002194	Delayed gross motor development	3	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012759	HP:0011344	Severe global developmental delay	3	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012759	HP:0001344	Absent speech	3	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0012759	HP:0001344	Absent speech	3	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0011344	Severe global developmental delay	3	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012759	HP:0001344	Absent speech	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0012759	HP:0011342	Mild global developmental delay	3	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0012759	HP:0001344	Absent speech	3	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0012759	HP:0002194	Delayed gross motor development	3	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0012759	HP:0001344	Absent speech	3	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0012759	HP:0001344	Absent speech	3	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional		33
HP:0012759	HP:0011344	Severe global developmental delay	3	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040281 - Very frequent		33
HP:0012759	HP:0001344	Absent speech	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012759	HP:0011344	Severe global developmental delay	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0012759	HP:0001344	Absent speech	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0012759	HP:0012736	Profound global developmental delay	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0012759	HP:0002194	Delayed gross motor development	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012759	HP:0011342	Mild global developmental delay	3	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0012759	HP:0001344	Absent speech	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0012759	HP:0002194	Delayed gross motor development	3	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012759	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		22
HP:0012759	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0002474	Expressive language delay	3	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0012759	HP:0032988	Persistent head lag	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0002194	Delayed gross motor development	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0012759	HP:0002194	Delayed gross motor development	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0012759	HP:0002194	Delayed gross motor development	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0012759	HP:0011343	Moderate global developmental delay	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012759	HP:0011344	Severe global developmental delay	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012759	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		3
HP:0012759	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0002474	Expressive language delay	3	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0012759	HP:0002194	Delayed gross motor development	3	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0012759	HP:0002194	Delayed gross motor development	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0012759	HP:0002194	Delayed gross motor development	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012759	HP:0001344	Absent speech	3	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0012759	HP:0001344	Absent speech	3	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0012759	HP:0002194	Delayed gross motor development	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0012759	HP:0001344	Absent speech	3	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0002194	Delayed gross motor development	3	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0012759	HP:0001344	Absent speech	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012759	HP:0002194	Delayed gross motor development	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0012759	HP:0001344	Absent speech	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0002194	Delayed gross motor development	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0011342	Mild global developmental delay	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0001344	Absent speech	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0012759	HP:0001344	Absent speech	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0012759	HP:0002194	Delayed gross motor development	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012759	HP:0002194	Delayed gross motor development	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0010862	Delayed fine motor development	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0012759	HP:0001344	Absent speech	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0012759	HP:0011344	Severe global developmental delay	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0012759	HP:0001344	Absent speech	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0012759	HP:0002194	Delayed gross motor development	3	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0001344	Absent speech	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0012759	HP:0002474	Expressive language delay	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0012759	HP:0011344	Severe global developmental delay	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0012759	HP:0001344	Absent speech	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0002194	Delayed gross motor development	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0011344	Severe global developmental delay	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0002194	Delayed gross motor development	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0012759	HP:0002194	Delayed gross motor development	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0012759	HP:0012736	Profound global developmental delay	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012759	HP:0011344	Severe global developmental delay	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0012759	HP:0002194	Delayed gross motor development	3	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0012759	HP:0002194	Delayed gross motor development	3	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0012759	HP:0011344	Severe global developmental delay	3	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.		1
HP:0012759	HP:0001344	Absent speech	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0012759	HP:0001344	Absent speech	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0012759	HP:0011344	Severe global developmental delay	3	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0012759	HP:0001344	Absent speech	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0012759	HP:0002194	Delayed gross motor development	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0010862	Delayed fine motor development	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0011344	Severe global developmental delay	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012759	HP:0001344	Absent speech	3	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0012759	HP:0001344	Absent speech	3	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0012759	HP:0002194	Delayed gross motor development	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0012759	HP:0002474	Expressive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0012759	HP:0010863	Receptive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0012759	HP:0002194	Delayed gross motor development	3	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0001344	Absent speech	3	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012759	HP:0011344	Severe global developmental delay	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0012759	HP:0001344	Absent speech	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0002194	Delayed gross motor development	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0001344	Absent speech	3	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.		6
HP:0012759	HP:0011344	Severe global developmental delay	3	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0032988	Persistent head lag	3	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0012759	HP:0011344	Severe global developmental delay	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0012759	HP:0002194	Delayed gross motor development	3	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0002194	Delayed gross motor development	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0012759	HP:0001344	Absent speech	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0012759	HP:0011344	Severe global developmental delay	3	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0012759	HP:0011344	Severe global developmental delay	3	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0012759	HP:0011344	Severe global developmental delay	3	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0012759	HP:0011344	Severe global developmental delay	3	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0012759	HP:0001344	Absent speech	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent		18
HP:0012759	HP:0001344	Absent speech	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040281 - Very frequent		18
HP:0012759	HP:0001344	Absent speech	3	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0012759	HP:0002194	Delayed gross motor development	3	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0012759	HP:0011344	Severe global developmental delay	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012759	HP:0002194	Delayed gross motor development	3	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0012759	HP:0011344	Severe global developmental delay	3	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012759	HP:0001344	Absent speech	3	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0012759	HP:0001344	Absent speech	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012759	HP:0001344	Absent speech	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0002194	Delayed gross motor development	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0012759	HP:0011344	Severe global developmental delay	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0012759	HP:0011342	Mild global developmental delay	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0012759	HP:0002194	Delayed gross motor development	3	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0001344	Absent speech	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0012759	HP:0012736	Profound global developmental delay	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0012759	HP:0032988	Persistent head lag	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012759	HP:0002194	Delayed gross motor development	3	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0002194	Delayed gross motor development	3	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0012759	HP:0002194	Delayed gross motor development	3	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0012759	HP:0011344	Severe global developmental delay	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012759	HP:0002194	Delayed gross motor development	3	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0012759	HP:0012736	Profound global developmental delay	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0012759	HP:0002194	Delayed gross motor development	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0010862	Delayed fine motor development	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001344	Absent speech	3	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0012759	HP:0011344	Severe global developmental delay	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0012736	Profound global developmental delay	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0012759	HP:0002194	Delayed gross motor development	3	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0012759	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		17
HP:0012759	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0002474	Expressive language delay	3	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0012759	HP:0001344	Absent speech	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		172
HP:0012759	HP:0001344	Absent speech	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012759	HP:0011344	Severe global developmental delay	3	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040281 - Very frequent		145
HP:0012759	HP:0002194	Delayed gross motor development	3	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent		111
HP:0012759	HP:0010862	Delayed fine motor development	3	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040281 - Very frequent		111
HP:0012759	HP:0011344	Severe global developmental delay	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0012759	HP:0002194	Delayed gross motor development	3	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0002194	Delayed gross motor development	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0012759	HP:0001344	Absent speech	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0012759	HP:0002194	Delayed gross motor development	3	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0012759	HP:0001344	Absent speech	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0012759	HP:0002474	Expressive language delay	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0010863	Receptive language delay	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012759	HP:0002194	Delayed gross motor development	3	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0002194	Delayed gross motor development	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012759	HP:0002194	Delayed gross motor development	3	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0012759	HP:0002194	Delayed gross motor development	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0010862	Delayed fine motor development	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0012759	HP:0011344	Severe global developmental delay	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0012759	HP:0001344	Absent speech	3	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0012759	HP:0001344	Absent speech	3	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0002194	Delayed gross motor development	3	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		48
HP:0012759	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0002474	Expressive language delay	3	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0012759	HP:0002474	Expressive language delay	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent		184
HP:0012759	HP:0002194	Delayed gross motor development	3	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0002474	Expressive language delay	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0012759	HP:0010863	Receptive language delay	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0012759	HP:0001344	Absent speech	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012759	HP:0001344	Absent speech	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.		1
HP:0012759	HP:0001344	Absent speech	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0002194	Delayed gross motor development	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0001344	Absent speech	3	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0012759	HP:0011342	Mild global developmental delay	3	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0012759	HP:0011344	Severe global developmental delay	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0012759	HP:0002194	Delayed gross motor development	3	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0012759	HP:0002194	Delayed gross motor development	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012759	HP:0011342	Mild global developmental delay	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0012759	HP:0002194	Delayed gross motor development	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0012759	HP:0002194	Delayed gross motor development	3	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0012759	HP:0011344	Severe global developmental delay	3	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0012759	HP:0001344	Absent speech	3	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0012759	HP:0011344	Severe global developmental delay	3	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012759	HP:0001344	Absent speech	3	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0012759	HP:0001344	Absent speech	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0001344	Absent speech	3	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0012759	HP:0011344	Severe global developmental delay	3	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0012759	HP:0002194	Delayed gross motor development	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0012759	HP:0002194	Delayed gross motor development	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0012759	HP:0002194	Delayed gross motor development	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0001344	Absent speech	3	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0011344	Severe global developmental delay	3	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0012759	HP:0011344	Severe global developmental delay	3	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040282 - Frequent		91
HP:0012759	HP:0002194	Delayed gross motor development	3	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012759	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		2
HP:0012759	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0002474	Expressive language delay	3	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0012759	HP:0032988	Persistent head lag	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012759	HP:0001344	Absent speech	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0012759	HP:0011344	Severe global developmental delay	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0012759	HP:0001344	Absent speech	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0012759	HP:0011344	Severe global developmental delay	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0012759	HP:0011342	Mild global developmental delay	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0012759	HP:0011342	Mild global developmental delay	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0012759	HP:0002194	Delayed gross motor development	3	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040283 - Occasional		37
HP:0012759	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0011344	Severe global developmental delay	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		173
HP:0012759	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		173
HP:0012759	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0002474	Expressive language delay	3	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0012759	HP:0002194	Delayed gross motor development	3	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	.
HP:0012759	HP:0011344	Severe global developmental delay	3	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012759	HP:0011344	Severe global developmental delay	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0012759	HP:0012736	Profound global developmental delay	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0012759	HP:0001344	Absent speech	3	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0012759	HP:0001344	Absent speech	3	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0002194	Delayed gross motor development	3	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0001344	Absent speech	3	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.		36
HP:0012759	HP:0001344	Absent speech	3	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0012759	HP:0002474	Expressive language delay	3	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0002474	Expressive language delay	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0010863	Receptive language delay	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0011342	Mild global developmental delay	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012759	HP:0001344	Absent speech	3	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0001344	Absent speech	3	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0012759	HP:0002474	Expressive language delay	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0012759	HP:0002194	Delayed gross motor development	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012759	HP:0011344	Severe global developmental delay	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0012759	HP:0002474	Expressive language delay	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0012759	HP:0001344	Absent speech	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0012759	HP:0001344	Absent speech	3	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012759	HP:0011344	Severe global developmental delay	3	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0012759	HP:0001344	Absent speech	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0012759	HP:0010863	Receptive language delay	3	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0012759	HP:0001344	Absent speech	3	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0001344	Absent speech	3	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0010862	Delayed fine motor development	3	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0012759	HP:0010862	Delayed fine motor development	3	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0012759	HP:0001344	Absent speech	3	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0012759	HP:0002474	Expressive language delay	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0012759	HP:0001344	Absent speech	3	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0012759	HP:0001344	Absent speech	3	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent		108
HP:0012759	HP:0011344	Severe global developmental delay	3	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0012759	HP:0012736	Profound global developmental delay	3	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent		108
HP:0012759	HP:0011344	Severe global developmental delay	3	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0012759	HP:0012736	Profound global developmental delay	3	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0012759	HP:0001344	Absent speech	3	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0012759	HP:0001344	Absent speech	3	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0012736	Profound global developmental delay	3	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent		434
HP:0012759	HP:0001344	Absent speech	3	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0012759	HP:0002194	Delayed gross motor development	3	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0001344	Absent speech	3	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0012759	HP:0001344	Absent speech	3	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040283 - Occasional		8
HP:0012759	HP:0001344	Absent speech	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0011344	Severe global developmental delay	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0012759	HP:0011344	Severe global developmental delay	3	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012759	HP:0001344	Absent speech	3	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0011344	Severe global developmental delay	3	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0012759	HP:0011344	Severe global developmental delay	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0012759	HP:0012736	Profound global developmental delay	3	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0012759	HP:0002194	Delayed gross motor development	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0001344	Absent speech	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0012759	HP:0012736	Profound global developmental delay	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012759	HP:0011344	Severe global developmental delay	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012759	HP:0011343	Moderate global developmental delay	3	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare		73
HP:0012759	HP:0002194	Delayed gross motor development	3	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0012759	HP:0001344	Absent speech	3	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0012759	HP:0001344	Absent speech	3	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0002194	Delayed gross motor development	3	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0002194	Delayed gross motor development	3	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0012759	HP:0001344	Absent speech	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0012759	HP:0001344	Absent speech	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0002474	Expressive language delay	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012759	HP:0002194	Delayed gross motor development	3	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0011344	Severe global developmental delay	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		21
HP:0012759	HP:0001344	Absent speech	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0012759	HP:0001344	Absent speech	3	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0012759	HP:0001344	Absent speech	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0012759	HP:0002194	Delayed gross motor development	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0002194	Delayed gross motor development	3	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0001344	Absent speech	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0012759	HP:0001344	Absent speech	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0012759	HP:0002194	Delayed gross motor development	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012759	HP:0002194	Delayed gross motor development	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012759	HP:0001344	Absent speech	3	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0012759	HP:0002194	Delayed gross motor development	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0012759	HP:0002194	Delayed gross motor development	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012759	HP:0001344	Absent speech	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0012759	HP:0011343	Moderate global developmental delay	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012759	HP:0001344	Absent speech	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0012759	HP:0001344	Absent speech	3	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0012759	HP:0001344	Absent speech	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0012759	HP:0002194	Delayed gross motor development	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0002194	Delayed gross motor development	3	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012759	HP:0001344	Absent speech	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011342	Mild global developmental delay	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001344	Absent speech	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0012759	HP:0032988	Persistent head lag	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012759	HP:0002194	Delayed gross motor development	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0011344	Severe global developmental delay	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0012759	HP:0001344	Absent speech	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0011344	Severe global developmental delay	3	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0012759	HP:0001344	Absent speech	3	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0012759	HP:0001344	Absent speech	3	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0002194	Delayed gross motor development	3	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0001344	Absent speech	3	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0012759	HP:0001344	Absent speech	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0012759	HP:0001344	Absent speech	3	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0012759	HP:0011343	Moderate global developmental delay	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0012759	HP:0001344	Absent speech	3	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0012759	HP:0002194	Delayed gross motor development	3	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0012759	HP:0002194	Delayed gross motor development	3	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0002194	Delayed gross motor development	3	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent		177
HP:0012759	HP:0010862	Delayed fine motor development	3	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent		177
HP:0012759	HP:0011344	Severe global developmental delay	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012759	HP:0002194	Delayed gross motor development	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012759	HP:0001344	Absent speech	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0002194	Delayed gross motor development	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0011344	Severe global developmental delay	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0001344	Absent speech	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0002194	Delayed gross motor development	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0002194	Delayed gross motor development	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0010862	Delayed fine motor development	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012759	HP:0011344	Severe global developmental delay	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0012759	HP:0012736	Profound global developmental delay	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0012759	HP:0001344	Absent speech	3	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0012759	HP:0001344	Absent speech	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0001344	Absent speech	3	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0012759	HP:0001344	Absent speech	3	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0011344	Severe global developmental delay	3	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012759	HP:0001344	Absent speech	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0011344	Severe global developmental delay	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001344	Absent speech	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040283 - Occasional		121
HP:0012759	HP:0011342	Mild global developmental delay	3	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		127
HP:0012759	HP:0011344	Severe global developmental delay	3	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0002194	Delayed gross motor development	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0010862	Delayed fine motor development	3	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012759	HP:0012736	Profound global developmental delay	3	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent		528
HP:0012759	HP:0001344	Absent speech	3	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0012759	HP:0001344	Absent speech	3	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0012759	HP:0002194	Delayed gross motor development	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0012759	HP:0002194	Delayed gross motor development	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0002194	Delayed gross motor development	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0010862	Delayed fine motor development	3	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012759	HP:0002194	Delayed gross motor development	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0011343	Moderate global developmental delay	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0011344	Severe global developmental delay	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0012759	HP:0001344	Absent speech	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0012759	HP:0002194	Delayed gross motor development	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0012759	HP:0002194	Delayed gross motor development	3	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0002194	Delayed gross motor development	3	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0002194	Delayed gross motor development	3	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0012759	HP:0001344	Absent speech	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001344	Absent speech	3	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0012759	HP:0001344	Absent speech	3	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0012759	HP:0002194	Delayed gross motor development	3	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0002194	Delayed gross motor development	3	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0002194	Delayed gross motor development	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0012759	HP:0011344	Severe global developmental delay	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0012759	HP:0002194	Delayed gross motor development	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0012759	HP:0002474	Expressive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0012759	HP:0010863	Receptive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0012759	HP:0002194	Delayed gross motor development	3	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0012759	HP:0001344	Absent speech	3	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0012759	HP:0002194	Delayed gross motor development	3	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012759	HP:0002194	Delayed gross motor development	3	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0002194	Delayed gross motor development	3	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0012759	HP:0011344	Severe global developmental delay	3	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent		71
HP:0012759	HP:0011344	Severe global developmental delay	3	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.		71
HP:0012759	HP:0032988	Persistent head lag	3	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012759	HP:0001344	Absent speech	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0012759	HP:0002194	Delayed gross motor development	3	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0002194	Delayed gross motor development	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0012759	HP:0001344	Absent speech	3	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0012759	HP:0002194	Delayed gross motor development	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0012759	HP:0011342	Mild global developmental delay	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0012759	HP:0011344	Severe global developmental delay	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		43
HP:0012759	HP:0011344	Severe global developmental delay	3	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0012759	HP:0012736	Profound global developmental delay	3	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0012759	HP:0001344	Absent speech	3	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0012759	HP:0032988	Persistent head lag	3	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0001344	Absent speech	3	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0012759	HP:0001344	Absent speech	3	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0012759	HP:0012736	Profound global developmental delay	3	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0012759	HP:0001344	Absent speech	3	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0012759	HP:0001344	Absent speech	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0002194	Delayed gross motor development	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0002194	Delayed gross motor development	3	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0001344	Absent speech	3	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0012759	HP:0011342	Mild global developmental delay	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0012759	HP:0002194	Delayed gross motor development	3	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome			124
HP:0012759	HP:0002194	Delayed gross motor development	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0012759	HP:0011342	Mild global developmental delay	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0012759	HP:0002194	Delayed gross motor development	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0012759	HP:0011342	Mild global developmental delay	3	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional		125
HP:0012759	HP:0002194	Delayed gross motor development	3	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0011344	Severe global developmental delay	3	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0012759	HP:0002194	Delayed gross motor development	3	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0001344	Absent speech	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0032988	Persistent head lag	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012759	HP:0001344	Absent speech	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0012759	HP:0002194	Delayed gross motor development	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0011344	Severe global developmental delay	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012759	HP:0011343	Moderate global developmental delay	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0011344	Severe global developmental delay	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012759	HP:0001344	Absent speech	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0012759	HP:0002194	Delayed gross motor development	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0012759	HP:0011342	Mild global developmental delay	3	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012759	HP:0002194	Delayed gross motor development	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012759	HP:0011344	Severe global developmental delay	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0012759	HP:0002194	Delayed gross motor development	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0001344	Absent speech	3	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0012759	HP:0002194	Delayed gross motor development	3	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0012759	HP:0002194	Delayed gross motor development	3	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0011342	Mild global developmental delay	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0012759	HP:0001344	Absent speech	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0012759	HP:0001344	Absent speech	3	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0012759	HP:0001344	Absent speech	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0012759	HP:0002194	Delayed gross motor development	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0002194	Delayed gross motor development	3	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0012759	HP:0011344	Severe global developmental delay	3	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0012759	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0002194	Delayed gross motor development	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0011344	Severe global developmental delay	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0032988	Persistent head lag	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0002194	Delayed gross motor development	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0011344	Severe global developmental delay	3	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0012759	HP:0002194	Delayed gross motor development	3	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0012759	HP:0001344	Absent speech	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0012759	HP:0002194	Delayed gross motor development	3	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0012759	HP:0002474	Expressive language delay	3	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0012759	HP:0001344	Absent speech	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0012759	HP:0011344	Severe global developmental delay	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040281 - Very frequent		43
HP:0012759	HP:0001344	Absent speech	3	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0002194	Delayed gross motor development	3	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0002194	Delayed gross motor development	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0012759	HP:0011343	Moderate global developmental delay	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012759	HP:0011344	Severe global developmental delay	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012759	HP:0002194	Delayed gross motor development	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0012759	HP:0011344	Severe global developmental delay	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0012759	HP:0002194	Delayed gross motor development	3	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0012759	HP:0001344	Absent speech	3	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0012759	HP:0012736	Profound global developmental delay	3	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0012759	HP:0002194	Delayed gross motor development	3	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0012759	HP:0001344	Absent speech	3	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0012759	HP:0032988	Persistent head lag	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012759	HP:0002194	Delayed gross motor development	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0012759	HP:0001344	Absent speech	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0002194	Delayed gross motor development	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0010862	Delayed fine motor development	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0012759	HP:0001344	Absent speech	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0002194	Delayed gross motor development	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0001344	Absent speech	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0012759	HP:0002194	Delayed gross motor development	3	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012759	HP:0001344	Absent speech	3	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0012759	HP:0011344	Severe global developmental delay	3	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0012759	HP:0032988	Persistent head lag	3	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012759	HP:0002194	Delayed gross motor development	3	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012759	HP:0002194	Delayed gross motor development	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0001344	Absent speech	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012759	HP:0002194	Delayed gross motor development	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012759	HP:0002194	Delayed gross motor development	3	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0001344	Absent speech	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0012759	HP:0001344	Absent speech	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0002194	Delayed gross motor development	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0002194	Delayed gross motor development	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0012759	HP:0002194	Delayed gross motor development	3	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0012759	HP:0011344	Severe global developmental delay	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0012759	HP:0002194	Delayed gross motor development	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0012759	HP:0002194	Delayed gross motor development	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0012759	HP:0002194	Delayed gross motor development	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0012759	HP:0032988	Persistent head lag	3	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0012759	HP:0002194	Delayed gross motor development	3	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0012759	HP:0002194	Delayed gross motor development	3	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0012759	HP:0002194	Delayed gross motor development	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0012759	HP:0011344	Severe global developmental delay	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012759	HP:0032988	Persistent head lag	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012759	HP:0001344	Absent speech	3	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0012759	HP:0001344	Absent speech	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0012759	HP:0002194	Delayed gross motor development	3	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0002194	Delayed gross motor development	3	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0011342	Mild global developmental delay	3	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		34
HP:0012759	HP:0002194	Delayed gross motor development	3	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0001344	Absent speech	3	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0012759	HP:0001344	Absent speech	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0012759	HP:0002194	Delayed gross motor development	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0012759	HP:0002194	Delayed gross motor development	3	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0011344	Severe global developmental delay	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0012759	HP:0012736	Profound global developmental delay	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0012759	HP:0012736	Profound global developmental delay	3	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0012759	HP:0011342	Mild global developmental delay	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0002194	Delayed gross motor development	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0010862	Delayed fine motor development	3	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0012759	HP:0002194	Delayed gross motor development	3	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012759	HP:0002194	Delayed gross motor development	3	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012759	HP:0002194	Delayed gross motor development	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0011344	Severe global developmental delay	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0012736	Profound global developmental delay	3	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0012759	HP:0001344	Absent speech	3	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0012759	HP:0002194	Delayed gross motor development	3	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012759	HP:0001344	Absent speech	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0002194	Delayed gross motor development	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0001344	Absent speech	3	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0012759	HP:0011344	Severe global developmental delay	3	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0012759	HP:0011343	Moderate global developmental delay	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0012759	HP:0002194	Delayed gross motor development	3	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0012759	HP:0011342	Mild global developmental delay	3	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0012759	HP:0001344	Absent speech	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0012759	HP:0002194	Delayed gross motor development	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0001344	Absent speech	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012759	HP:0002194	Delayed gross motor development	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012759	HP:0011344	Severe global developmental delay	3	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0012759	HP:0011344	Severe global developmental delay	3	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012759	HP:0002194	Delayed gross motor development	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		45
HP:0012759	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0002474	Expressive language delay	3	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0012759	HP:0002194	Delayed gross motor development	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0032988	Persistent head lag	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0002194	Delayed gross motor development	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0011342	Mild global developmental delay	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0002194	Delayed gross motor development	3	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0012759	HP:0001344	Absent speech	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0012759	HP:0001344	Absent speech	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0002474	Expressive language delay	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012759	HP:0011342	Mild global developmental delay	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0012759	HP:0032988	Persistent head lag	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0001344	Absent speech	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0012759	HP:0002194	Delayed gross motor development	3	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0011344	Severe global developmental delay	3	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0012759	HP:0001344	Absent speech	3	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012759	HP:0011344	Severe global developmental delay	3	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0012759	HP:0002194	Delayed gross motor development	3	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012759	HP:0002194	Delayed gross motor development	3	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0011342	Mild global developmental delay	3	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001344	Absent speech	3	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0012759	HP:0011342	Mild global developmental delay	3	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0012759	HP:0002194	Delayed gross motor development	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0001344	Absent speech	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0002194	Delayed gross motor development	3	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012759	HP:0011344	Severe global developmental delay	3	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0012759	HP:0012736	Profound global developmental delay	3	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0012759	HP:0001344	Absent speech	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0002194	Delayed gross motor development	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0001344	Absent speech	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0012759	HP:0002194	Delayed gross motor development	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0012759	HP:0011344	Severe global developmental delay	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		41
HP:0012759	HP:0002194	Delayed gross motor development	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012759	HP:0001344	Absent speech	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0012759	HP:0001344	Absent speech	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0012759	HP:0002194	Delayed gross motor development	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0012759	HP:0002194	Delayed gross motor development	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0012759	HP:0002194	Delayed gross motor development	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0010863	Receptive language delay	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012759	HP:0002194	Delayed gross motor development	3	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0001344	Absent speech	3	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012759	HP:0012736	Profound global developmental delay	3	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.		14
HP:0012759	HP:0011342	Mild global developmental delay	3	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0012759	HP:0002194	Delayed gross motor development	3	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0011342	Mild global developmental delay	3	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent		52
HP:0012759	HP:0001344	Absent speech	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0011342	Mild global developmental delay	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0012759	HP:0011344	Severe global developmental delay	3	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0012759	HP:0012736	Profound global developmental delay	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0012759	HP:0001344	Absent speech	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0002194	Delayed gross motor development	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0001344	Absent speech	3	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0012759	HP:0011343	Moderate global developmental delay	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent		15
HP:0012759	HP:0011344	Severe global developmental delay	3	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012759	HP:0002194	Delayed gross motor development	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0012759	HP:0011343	Moderate global developmental delay	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0012759	HP:0011344	Severe global developmental delay	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0012759	HP:0002194	Delayed gross motor development	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0012759	HP:0002194	Delayed gross motor development	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0011342	Mild global developmental delay	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012759	HP:0002194	Delayed gross motor development	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0012759	HP:0002194	Delayed gross motor development	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0010862	Delayed fine motor development	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012759	HP:0002194	Delayed gross motor development	3	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0012759	HP:0001344	Absent speech	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0012759	HP:0001344	Absent speech	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0012759	HP:0002194	Delayed gross motor development	3	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0012759	HP:0001344	Absent speech	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012759	HP:0001344	Absent speech	3	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0002194	Delayed gross motor development	3	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012759	HP:0011344	Severe global developmental delay	3	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040281 - Very frequent		7
HP:0012759	HP:0001344	Absent speech	3	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	.		7
HP:0012759	HP:0011344	Severe global developmental delay	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0011344	Severe global developmental delay	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040281 - Very frequent		37
HP:0012759	HP:0001344	Absent speech	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0012759	HP:0002194	Delayed gross motor development	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0001344	Absent speech	3	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0012759	HP:0001344	Absent speech	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0011344	Severe global developmental delay	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012759	HP:0011344	Severe global developmental delay	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0012736	Profound global developmental delay	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012759	HP:0001344	Absent speech	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012759	HP:0001344	Absent speech	3	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0012759	HP:0011344	Severe global developmental delay	3	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0012759	HP:0001344	Absent speech	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0012759	HP:0002194	Delayed gross motor development	3	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0012759	HP:0012736	Profound global developmental delay	3	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.		3
HP:0012759	HP:0011342	Mild global developmental delay	3	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0012759	HP:0002194	Delayed gross motor development	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0012759	HP:0002194	Delayed gross motor development	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0012759	HP:0011342	Mild global developmental delay	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0012759	HP:0011343	Moderate global developmental delay	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0012759	HP:0002194	Delayed gross motor development	3	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012759	HP:0001344	Absent speech	3	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0012759	HP:0002194	Delayed gross motor development	3	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012759	HP:0001344	Absent speech	3	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0012759	HP:0002194	Delayed gross motor development	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0012759	HP:0002194	Delayed gross motor development	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012759	HP:0001344	Absent speech	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0012759	HP:0001344	Absent speech	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012759	HP:0001344	Absent speech	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0012759	HP:0002474	Expressive language delay	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0012759	HP:0002194	Delayed gross motor development	3	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012759	HP:0002194	Delayed gross motor development	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0002194	Delayed gross motor development	3	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0001344	Absent speech	3	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0002194	Delayed gross motor development	3	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0001344	Absent speech	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0011342	Mild global developmental delay	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0011344	Severe global developmental delay	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012759	HP:0011344	Severe global developmental delay	3	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0012759	HP:0002194	Delayed gross motor development	3	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0001344	Absent speech	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0012759	HP:0001344	Absent speech	3	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0012759	HP:0001344	Absent speech	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0012759	HP:0002194	Delayed gross motor development	3	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent		221
HP:0012759	HP:0010862	Delayed fine motor development	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0012759	HP:0011344	Severe global developmental delay	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		36
HP:0012759	HP:0001344	Absent speech	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012759	HP:0001344	Absent speech	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012759	HP:0011344	Severe global developmental delay	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012759	HP:0002194	Delayed gross motor development	3	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0012759	HP:0001344	Absent speech	3	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0012759	HP:0002194	Delayed gross motor development	3	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0012759	HP:0001344	Absent speech	3	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001344	Absent speech	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0002194	Delayed gross motor development	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012759	HP:0001344	Absent speech	3	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0012759	HP:0002194	Delayed gross motor development	3	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0001344	Absent speech	3	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0012759	HP:0001344	Absent speech	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0012759	HP:0002194	Delayed gross motor development	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0011344	Severe global developmental delay	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012759	HP:0011342	Mild global developmental delay	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0012759	HP:0001344	Absent speech	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0002194	Delayed gross motor development	3	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0012759	HP:0011344	Severe global developmental delay	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		54
HP:0012759	HP:0011344	Severe global developmental delay	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012759	HP:0001344	Absent speech	3	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0012759	HP:0012736	Profound global developmental delay	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0012759	HP:0001344	Absent speech	3	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012759	HP:0012736	Profound global developmental delay	3	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0012759	HP:0001344	Absent speech	3	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012759	HP:0012736	Profound global developmental delay	3	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent		27
HP:0012759	HP:0001344	Absent speech	3	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0012759	HP:0001344	Absent speech	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0012759	HP:0011343	Moderate global developmental delay	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0012759	HP:0011344	Severe global developmental delay	3	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0012759	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		665
HP:0012759	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0002474	Expressive language delay	3	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0012759	HP:0002194	Delayed gross motor development	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0012759	HP:0012736	Profound global developmental delay	3	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0012759	HP:0002474	Expressive language delay	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0001344	Absent speech	3	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0012759	HP:0011344	Severe global developmental delay	3	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040282 - Frequent		53
HP:0012759	HP:0001344	Absent speech	3	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0002194	Delayed gross motor development	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012759	HP:0001344	Absent speech	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0012759	HP:0001344	Absent speech	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0012759	HP:0011344	Severe global developmental delay	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0012759	HP:0001344	Absent speech	3	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0012759	HP:0002194	Delayed gross motor development	3	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012759	HP:0001344	Absent speech	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0012759	HP:0002194	Delayed gross motor development	3	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0002194	Delayed gross motor development	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0011344	Severe global developmental delay	3	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0001344	Absent speech	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0012759	HP:0011344	Severe global developmental delay	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0012759	HP:0001344	Absent speech	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0012759	HP:0001344	Absent speech	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0012759	HP:0001344	Absent speech	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0012759	HP:0002474	Expressive language delay	3	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0002194	Delayed gross motor development	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012759	HP:0001344	Absent speech	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0002194	Delayed gross motor development	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0001344	Absent speech	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0011344	Severe global developmental delay	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0012759	HP:0002194	Delayed gross motor development	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0012759	HP:0001344	Absent speech	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0012759	HP:0012736	Profound global developmental delay	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012759	HP:0011342	Mild global developmental delay	3	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0012759	HP:0011342	Mild global developmental delay	3	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0012759	HP:0002194	Delayed gross motor development	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0011344	Severe global developmental delay	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0002194	Delayed gross motor development	3	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0012759	HP:0011344	Severe global developmental delay	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0012759	HP:0012736	Profound global developmental delay	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0012759	HP:0002194	Delayed gross motor development	3	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0012759	HP:0001344	Absent speech	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0012759	HP:0001344	Absent speech	3	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0012759	HP:0001344	Absent speech	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012759	HP:0011344	Severe global developmental delay	3	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012759	HP:0011344	Severe global developmental delay	3	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0012759	HP:0011344	Severe global developmental delay	3	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0012759	HP:0011342	Mild global developmental delay	3	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome			7
HP:0012759	HP:0011344	Severe global developmental delay	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012759	HP:0002194	Delayed gross motor development	3	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0012759	HP:0001344	Absent speech	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012759	HP:0002194	Delayed gross motor development	3	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0002194	Delayed gross motor development	3	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0011342	Mild global developmental delay	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0012759	HP:0002194	Delayed gross motor development	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0001344	Absent speech	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0012759	HP:0011344	Severe global developmental delay	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0012759	HP:0011342	Mild global developmental delay	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0012759	HP:0002474	Expressive language delay	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0012759	HP:0002194	Delayed gross motor development	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0012759	HP:0011343	Moderate global developmental delay	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0012759	HP:0011344	Severe global developmental delay	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0012759	HP:0011344	Severe global developmental delay	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0012759	HP:0002194	Delayed gross motor development	3	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent		9
HP:0012759	HP:0002194	Delayed gross motor development	3	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0002194	Delayed gross motor development	3	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0012759	HP:0002194	Delayed gross motor development	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0012759	HP:0002194	Delayed gross motor development	3	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012759	HP:0002194	Delayed gross motor development	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012759	HP:0002194	Delayed gross motor development	3	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0012759	HP:0001344	Absent speech	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0002194	Delayed gross motor development	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0001344	Absent speech	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040281 - Very frequent		34
HP:0012759	HP:0011344	Severe global developmental delay	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0012759	HP:0001344	Absent speech	3	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0012759	HP:0001344	Absent speech	3	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0012759	HP:0002194	Delayed gross motor development	3	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0012759	HP:0001344	Absent speech	3	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0012759	HP:0002194	Delayed gross motor development	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0012759	HP:0002474	Expressive language delay	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0012759	HP:0011343	Moderate global developmental delay	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0012759	HP:0002474	Expressive language delay	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0012759	HP:0011343	Moderate global developmental delay	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0012759	HP:0002474	Expressive language delay	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0012759	HP:0011343	Moderate global developmental delay	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0012759	HP:0002194	Delayed gross motor development	3	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0002474	Expressive language delay	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0012759	HP:0011343	Moderate global developmental delay	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0012759	HP:0002194	Delayed gross motor development	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0012759	HP:0002194	Delayed gross motor development	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0012759	HP:0002194	Delayed gross motor development	3	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0012759	HP:0011344	Severe global developmental delay	3	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0012759	HP:0002194	Delayed gross motor development	3	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0011344	Severe global developmental delay	3	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		66
HP:0012759	HP:0001344	Absent speech	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012759	HP:0002194	Delayed gross motor development	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0012759	HP:0001344	Absent speech	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0012759	HP:0012736	Profound global developmental delay	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent		143
HP:0012759	HP:0002194	Delayed gross motor development	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040281 - Very frequent		43
HP:0012759	HP:0002194	Delayed gross motor development	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0011342	Mild global developmental delay	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0012759	HP:0010863	Receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0012759	HP:0002474	Expressive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0012759	HP:0010863	Receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0012759	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		67
HP:0012759	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0002474	Expressive language delay	3	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0012759	HP:0002194	Delayed gross motor development	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0002474	Expressive language delay	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0002194	Delayed gross motor development	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0001344	Absent speech	3	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012759	HP:0001344	Absent speech	3	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040283 - Occasional		42
HP:0012759	HP:0002194	Delayed gross motor development	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012759	HP:0001344	Absent speech	3	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0012759	HP:0002194	Delayed gross motor development	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0010862	Delayed fine motor development	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012759	HP:0011342	Mild global developmental delay	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0012759	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0012759	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0002474	Expressive language delay	3	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0001344	Absent speech	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0001344	Absent speech	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0012736	Profound global developmental delay	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0012759	HP:0001344	Absent speech	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0001344	Absent speech	3	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0012759	HP:0001344	Absent speech	3	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0012759	HP:0032988	Persistent head lag	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0001344	Absent speech	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0012759	HP:0001344	Absent speech	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012759	HP:0001344	Absent speech	3	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012759	HP:0001344	Absent speech	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012759	HP:0001344	Absent speech	3	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0012759	HP:0001344	Absent speech	3	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0012759	HP:0012736	Profound global developmental delay	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent		11
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0012759	HP:0001344	Absent speech	3	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0012759	HP:0001344	Absent speech	3	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0012759	HP:0001344	Absent speech	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0012759	HP:0011344	Severe global developmental delay	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0012759	HP:0001344	Absent speech	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0012736	Profound global developmental delay	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0012759	HP:0002194	Delayed gross motor development	3	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0012759	HP:0002194	Delayed gross motor development	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0001344	Absent speech	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0012759	HP:0001344	Absent speech	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0012759	HP:0001344	Absent speech	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0012759	HP:0001344	Absent speech	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0012759	HP:0001344	Absent speech	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0012759	HP:0002194	Delayed gross motor development	3	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0001344	Absent speech	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0012759	HP:0001344	Absent speech	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0012759	HP:0002194	Delayed gross motor development	3	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0012759	HP:0011344	Severe global developmental delay	3	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0012759	HP:0001344	Absent speech	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0002194	Delayed gross motor development	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0011344	Severe global developmental delay	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0001344	Absent speech	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0012759	HP:0002194	Delayed gross motor development	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040283 - Occasional		164
HP:0012759	HP:0001344	Absent speech	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0012759	HP:0002194	Delayed gross motor development	3	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0012759	HP:0001344	Absent speech	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0012759	HP:0001344	Absent speech	3	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		37
HP:0012759	HP:0002194	Delayed gross motor development	3	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0012759	HP:0001344	Absent speech	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0012759	HP:0001344	Absent speech	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0012759	HP:0002194	Delayed gross motor development	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0010862	Delayed fine motor development	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0011344	Severe global developmental delay	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040281 - Very frequent		14
HP:0012759	HP:0001344	Absent speech	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0012759	HP:0002194	Delayed gross motor development	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0010862	Delayed fine motor development	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0001344	Absent speech	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012759	HP:0002194	Delayed gross motor development	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0001344	Absent speech	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0012759	HP:0011342	Mild global developmental delay	3	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0012759	HP:0001344	Absent speech	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0012759	HP:0011342	Mild global developmental delay	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0012759	HP:0011343	Moderate global developmental delay	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0012759	HP:0001344	Absent speech	3	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0012759	HP:0001344	Absent speech	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0002474	Expressive language delay	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0010863	Receptive language delay	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012759	HP:0011342	Mild global developmental delay	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0012759	HP:0001344	Absent speech	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0012759	HP:0001344	Absent speech	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0012759	HP:0002194	Delayed gross motor development	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012759	HP:0002194	Delayed gross motor development	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0002194	Delayed gross motor development	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0032988	Persistent head lag	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001344	Absent speech	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0010862	Delayed fine motor development	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012759	HP:0001344	Absent speech	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0002194	Delayed gross motor development	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0012759	HP:0002194	Delayed gross motor development	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012759	HP:0001344	Absent speech	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0012759	HP:0002194	Delayed gross motor development	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0002474	Expressive language delay	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0012759	HP:0001344	Absent speech	3	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0012759	HP:0001344	Absent speech	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0002194	Delayed gross motor development	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0012759	HP:0001344	Absent speech	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0011344	Severe global developmental delay	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0012759	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		99
HP:0012759	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0012759	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0002474	Expressive language delay	3	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0012759	HP:0001344	Absent speech	3	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0012759	HP:0001344	Absent speech	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0011344	Severe global developmental delay	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001344	Absent speech	3	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0012759	HP:0011344	Severe global developmental delay	3	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0012759	HP:0002194	Delayed gross motor development	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0012759	HP:0002194	Delayed gross motor development	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0012759	HP:0032988	Persistent head lag	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012759	HP:0001344	Absent speech	3	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012759	HP:0001344	Absent speech	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0002194	Delayed gross motor development	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012759	HP:0002194	Delayed gross motor development	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0012759	HP:0001344	Absent speech	3	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0012759	HP:0002194	Delayed gross motor development	3	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0012759	HP:0001344	Absent speech	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0011344	Severe global developmental delay	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002194	Delayed gross motor development	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0012759	HP:0002194	Delayed gross motor development	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0002474	Expressive language delay	3	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0012759	HP:0001344	Absent speech	3	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0002194	Delayed gross motor development	3	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0011344	Severe global developmental delay	3	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0001344	Absent speech	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0012759	HP:0002194	Delayed gross motor development	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012759	HP:0011342	Mild global developmental delay	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0012759	HP:0011343	Moderate global developmental delay	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0011344	Severe global developmental delay	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0012759	HP:0001344	Absent speech	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0012759	HP:0011344	Severe global developmental delay	3	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0012759	HP:0001344	Absent speech	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0012759	HP:0001344	Absent speech	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012759	HP:0001344	Absent speech	3	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0012759	HP:0012736	Profound global developmental delay	3	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0012759	HP:0011344	Severe global developmental delay	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0001344	Absent speech	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0012759	HP:0011344	Severe global developmental delay	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0012759	HP:0011344	Severe global developmental delay	3	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0012759	HP:0002194	Delayed gross motor development	3	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0012759	HP:0011342	Mild global developmental delay	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0011343	Moderate global developmental delay	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0012759	HP:0011342	Mild global developmental delay	3	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0012759	HP:0002194	Delayed gross motor development	3	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0012759	HP:0001344	Absent speech	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0012759	HP:0001344	Absent speech	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0012759	HP:0001344	Absent speech	3	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0012759	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		1
HP:0012759	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0002474	Expressive language delay	3	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0012759	HP:0011344	Severe global developmental delay	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040281 - Very frequent		12
HP:0012759	HP:0001344	Absent speech	3	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0012759	HP:0012736	Profound global developmental delay	3	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0012759	HP:0011343	Moderate global developmental delay	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0012759	HP:0002194	Delayed gross motor development	3	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0010862	Delayed fine motor development	3	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0012759	HP:0001344	Absent speech	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012759	HP:0002194	Delayed gross motor development	3	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012759	HP:0002194	Delayed gross motor development	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0012759	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0012759	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0002474	Expressive language delay	3	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0012759	HP:0001344	Absent speech	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional		1
HP:0012759	HP:0002194	Delayed gross motor development	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0012759	HP:0032988	Persistent head lag	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0001344	Absent speech	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0012759	HP:0002194	Delayed gross motor development	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012759	HP:0002194	Delayed gross motor development	3	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0012759	HP:0001344	Absent speech	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0012759	HP:0001344	Absent speech	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0012759	HP:0001344	Absent speech	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0012759	HP:0001344	Absent speech	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0001344	Absent speech	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0001344	Absent speech	3	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0012759	HP:0011343	Moderate global developmental delay	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0012759	HP:0002194	Delayed gross motor development	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0012759	HP:0001344	Absent speech	3	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0012759	HP:0002194	Delayed gross motor development	3	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0010862	Delayed fine motor development	3	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012759	HP:0002194	Delayed gross motor development	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0012759	HP:0002194	Delayed gross motor development	3	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0012759	HP:0001344	Absent speech	3	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012759	HP:0002194	Delayed gross motor development	3	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0012759	HP:0002194	Delayed gross motor development	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0010862	Delayed fine motor development	3	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0012759	HP:0001344	Absent speech	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0012759	HP:0001344	Absent speech	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0012759	HP:0011342	Mild global developmental delay	3	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012759	HP:0001344	Absent speech	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0012759	HP:0011343	Moderate global developmental delay	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0011342	Mild global developmental delay	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012759	HP:0011342	Mild global developmental delay	3	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0012759	HP:0001344	Absent speech	3	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0002194	Delayed gross motor development	3	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0001344	Absent speech	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0012759	HP:0011344	Severe global developmental delay	3	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0011344	Severe global developmental delay	3	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0012759	HP:0001344	Absent speech	3	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0012759	HP:0011344	Severe global developmental delay	3	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012759	HP:0001344	Absent speech	3	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0002194	Delayed gross motor development	3	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0010862	Delayed fine motor development	3	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0012759	HP:0002194	Delayed gross motor development	3	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0012759	HP:0001344	Absent speech	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012759	HP:0002194	Delayed gross motor development	3	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012759	HP:0001344	Absent speech	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0002194	Delayed gross motor development	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0011344	Severe global developmental delay	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0002194	Delayed gross motor development	3	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0002194	Delayed gross motor development	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0012759	HP:0001344	Absent speech	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0001344	Absent speech	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0012759	HP:0002194	Delayed gross motor development	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0002194	Delayed gross motor development	3	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0012759	HP:0002194	Delayed gross motor development	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040284 - Very rare		101
HP:0012759	HP:0002194	Delayed gross motor development	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040284 - Very rare
HP:0012759	HP:0011344	Severe global developmental delay	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011342	Mild global developmental delay	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent
HP:0012759	HP:0002194	Delayed gross motor development	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012759	HP:0011344	Severe global developmental delay	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011344	Severe global developmental delay	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012759	HP:0001344	Absent speech	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0012759	HP:0002194	Delayed gross motor development	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0010862	Delayed fine motor development	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		3
HP:0012759	HP:0002194	Delayed gross motor development	3	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0010862	Delayed fine motor development	3	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		84
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		57
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		102
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0012759	HP:0011344	Severe global developmental delay	3	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0012759	HP:0011342	Mild global developmental delay	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012759	HP:0011344	Severe global developmental delay	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012759	HP:0001344	Absent speech	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0002194	Delayed gross motor development	3	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0002194	Delayed gross motor development	3	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0002194	Delayed gross motor development	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0012759	HP:0001344	Absent speech	3	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent		21
HP:0012759	HP:0011344	Severe global developmental delay	3	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent		21
HP:0012759	HP:0011344	Severe global developmental delay	3	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	.		23
HP:0012759	HP:0002194	Delayed gross motor development	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0002474	Expressive language delay	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0010862	Delayed fine motor development	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0011344	Severe global developmental delay	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0011344	Severe global developmental delay	3	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0012759	HP:0011344	Severe global developmental delay	3	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29	.		1
HP:0012759	HP:0001344	Absent speech	3	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0012759	HP:0010863	Receptive language delay	3	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0012759	HP:0001344	Absent speech	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0012759	HP:0002194	Delayed gross motor development	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent		7
HP:0012759	HP:0001344	Absent speech	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0012759	HP:0001344	Absent speech	3	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		278
HP:0012759	HP:0002194	Delayed gross motor development	3	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0012759	HP:0001344	Absent speech	3	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0012759	HP:0001344	Absent speech	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0012759	HP:0001344	Absent speech	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0012759	HP:0001344	Absent speech	3	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0012759	HP:0001344	Absent speech	3	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0012759	HP:0001344	Absent speech	3	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0012759	HP:0002194	Delayed gross motor development	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0011344	Severe global developmental delay	3	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0032988	Persistent head lag	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0001344	Absent speech	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0011344	Severe global developmental delay	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0012759	HP:0001344	Absent speech	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0011344	Severe global developmental delay	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0012759	HP:0012736	Profound global developmental delay	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0012759	HP:0001344	Absent speech	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0012759	HP:0001344	Absent speech	3	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0012759	HP:0001344	Absent speech	3	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0012759	HP:0001344	Absent speech	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0012759	HP:0001344	Absent speech	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.		2
HP:0012759	HP:0001344	Absent speech	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0012759	HP:0001344	Absent speech	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012759	HP:0001344	Absent speech	3	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0012759	HP:0001344	Absent speech	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012759	HP:0002194	Delayed gross motor development	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0001344	Absent speech	3	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012759	HP:0001344	Absent speech	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012759	HP:0002194	Delayed gross motor development	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0011344	Severe global developmental delay	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0012759	HP:0001344	Absent speech	3	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0012759	HP:0001344	Absent speech	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012759	HP:0002474	Expressive language delay	3	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0012759	HP:0001344	Absent speech	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0012759	HP:0002194	Delayed gross motor development	3	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0002194	Delayed gross motor development	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0010862	Delayed fine motor development	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0012736	Profound global developmental delay	3	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0001344	Absent speech	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0012759	HP:0002194	Delayed gross motor development	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012759	HP:0011342	Mild global developmental delay	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0011344	Severe global developmental delay	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0001344	Absent speech	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0012759	HP:0002194	Delayed gross motor development	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0012759	HP:0001344	Absent speech	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0012759	HP:0002194	Delayed gross motor development	3	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0012759	HP:0001344	Absent speech	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0012759	HP:0012736	Profound global developmental delay	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0012759	HP:0001344	Absent speech	3	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0012759	HP:0001344	Absent speech	3	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0012759	HP:0011344	Severe global developmental delay	3	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0012759	HP:0002194	Delayed gross motor development	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0010862	Delayed fine motor development	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0012759	HP:0002194	Delayed gross motor development	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0002194	Delayed gross motor development	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0002474	Expressive language delay	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012759	HP:0002194	Delayed gross motor development	3	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0001344	Absent speech	3	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0012759	HP:0001344	Absent speech	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0002194	Delayed gross motor development	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012759	HP:0011344	Severe global developmental delay	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0012759	HP:0002194	Delayed gross motor development	3	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0001344	Absent speech	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0012759	HP:0001344	Absent speech	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0002194	Delayed gross motor development	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0001344	Absent speech	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0012759	HP:0001344	Absent speech	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0012759	HP:0002194	Delayed gross motor development	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0012759	HP:0002474	Expressive language delay	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0012759	HP:0001344	Absent speech	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0012759	HP:0002194	Delayed gross motor development	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0012759	HP:0002474	Expressive language delay	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0012759	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		34
HP:0012759	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0002474	Expressive language delay	3	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0012759	HP:0002194	Delayed gross motor development	3	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012759	HP:0011344	Severe global developmental delay	3	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0012759	HP:0002194	Delayed gross motor development	3	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0011342	Mild global developmental delay	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0012759	HP:0011342	Mild global developmental delay	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0012759	HP:0012736	Profound global developmental delay	3	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012759	HP:0011344	Severe global developmental delay	3	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0012759	HP:0001344	Absent speech	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0012759	HP:0002194	Delayed gross motor development	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0012759	HP:0011345	Moderate expressive language delay	4	CL E G H
HP:0012759	HP:0011346	Mild expressive language delay	4	CL E G H
HP:0012759	HP:0011350	Mild receptive language delay	4	CL E G H
HP:0012759	HP:0033257	Delayed ability to walk with support	4	CL E G H
HP:0012759	HP:0031936	Delayed ability to walk	4	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0012759	HP:0031936	Delayed ability to walk	4	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0012759	HP:0031936	Delayed ability to walk	4	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012759	HP:0025336	Delayed ability to sit	4	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0012759	HP:0031936	Delayed ability to walk	4	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0012759	HP:0032989	Delayed ability to roll over	4	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0025336	Delayed ability to sit	4	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0031936	Delayed ability to walk	4	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0012759	HP:0025336	Delayed ability to sit	4	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0031936	Delayed ability to walk	4	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0012759	HP:0031936	Delayed ability to walk	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0012759	HP:0025336	Delayed ability to sit	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012759	HP:0031936	Delayed ability to walk	4	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0012759	HP:0025335	Delayed ability to stand	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0012759	HP:0025336	Delayed ability to sit	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0012759	HP:0031936	Delayed ability to walk	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0012759	HP:0031936	Delayed ability to walk	4	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0012759	HP:0031936	Delayed ability to walk	4	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0012759	HP:0031936	Delayed ability to walk	4	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.		21
HP:0012759	HP:0025336	Delayed ability to sit	4	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0031936	Delayed ability to walk	4	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0012759	HP:0006863	Severe expressive language delay	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0012759	HP:0031936	Delayed ability to walk	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012759	HP:0031936	Delayed ability to walk	4	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0012759	HP:0006863	Severe expressive language delay	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0012759	HP:0031936	Delayed ability to walk	4	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0012759	HP:0031936	Delayed ability to walk	4	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0012759	HP:0031936	Delayed ability to walk	4	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0012759	HP:0032989	Delayed ability to roll over	4	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0031936	Delayed ability to walk	4	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0012759	HP:0031936	Delayed ability to walk	4	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0012759	HP:0031936	Delayed ability to walk	4	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0012759	HP:0031936	Delayed ability to walk	4	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0012759	HP:0031936	Delayed ability to walk	4	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0012759	HP:0025335	Delayed ability to stand	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0012759	HP:0031936	Delayed ability to walk	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0012759	HP:0031936	Delayed ability to walk	4	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0012759	HP:0031936	Delayed ability to walk	4	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0012759	HP:0025336	Delayed ability to sit	4	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0031936	Delayed ability to walk	4	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0012759	HP:0031936	Delayed ability to walk	4	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0012759	HP:0025336	Delayed ability to sit	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0012759	HP:0031936	Delayed ability to walk	4	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0012759	HP:0032989	Delayed ability to roll over	4	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0033128	Delayed ability to crawl	4	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0025336	Delayed ability to sit	4	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0031936	Delayed ability to walk	4	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0012759	HP:0031936	Delayed ability to walk	4	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0012759	HP:0031936	Delayed ability to walk	4	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012759	HP:0031936	Delayed ability to walk	4	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0012759	HP:0031936	Delayed ability to walk	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0012759	HP:0025336	Delayed ability to sit	4	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0031936	Delayed ability to walk	4	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0012759	HP:0025336	Delayed ability to sit	4	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0012759	HP:0031936	Delayed ability to walk	4	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012759	HP:0025335	Delayed ability to stand	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0012759	HP:0031936	Delayed ability to walk	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0012759	HP:0025335	Delayed ability to stand	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0012759	HP:0031936	Delayed ability to walk	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0012759	HP:0025336	Delayed ability to sit	4	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0031936	Delayed ability to walk	4	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012759	HP:0031936	Delayed ability to walk	4	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0012759	HP:0031936	Delayed ability to walk	4	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012759	HP:0031936	Delayed ability to walk	4	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012759	HP:0031936	Delayed ability to walk	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0012759	HP:0031936	Delayed ability to walk	4	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2	.		65
HP:0012759	HP:0025335	Delayed ability to stand	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent		65
HP:0012759	HP:0031936	Delayed ability to walk	4	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent		65
HP:0012759	HP:0025336	Delayed ability to sit	4	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0012759	HP:0031936	Delayed ability to walk	4	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0012759	HP:0031936	Delayed ability to walk	4	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012759	HP:0031936	Delayed ability to walk	4	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0012759	HP:0031936	Delayed ability to walk	4	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0012759	HP:0031936	Delayed ability to walk	4	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0012759	HP:0033128	Delayed ability to crawl	4	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0025336	Delayed ability to sit	4	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0031936	Delayed ability to walk	4	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0012759	HP:0031936	Delayed ability to walk	4	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0012759	HP:0025336	Delayed ability to sit	4	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0031936	Delayed ability to walk	4	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012759	HP:0031936	Delayed ability to walk	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0012759	HP:0031936	Delayed ability to walk	4	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0012759	HP:0031936	Delayed ability to walk	4	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0012759	HP:0025336	Delayed ability to sit	4	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012759	HP:0031936	Delayed ability to walk	4	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012759	HP:0031936	Delayed ability to walk	4	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0012759	HP:0031936	Delayed ability to walk	4	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0012759	HP:0031936	Delayed ability to walk	4	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0012759	HP:0025335	Delayed ability to stand	4	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0012759	HP:0031936	Delayed ability to walk	4	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0012759	HP:0031936	Delayed ability to walk	4	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.		3
HP:0012759	HP:0025335	Delayed ability to stand	4	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0031936	Delayed ability to walk	4	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0012759	HP:0031936	Delayed ability to walk	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0012759	HP:0025335	Delayed ability to stand	4	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0031936	Delayed ability to walk	4	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15			9
HP:0012759	HP:0006863	Severe expressive language delay	4	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0012759	HP:0025336	Delayed ability to sit	4	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0031936	Delayed ability to walk	4	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012759	HP:0031936	Delayed ability to walk	4	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.		427
HP:0012759	HP:0031936	Delayed ability to walk	4	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0012759	HP:0006863	Severe expressive language delay	4	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0012759	HP:0011351	Moderate receptive language delay	4	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0012759	HP:0031936	Delayed ability to walk	4	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0012759	HP:0025336	Delayed ability to sit	4	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0031936	Delayed ability to walk	4	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0012759	HP:0031936	Delayed ability to walk	4	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0012759	HP:0031936	Delayed ability to walk	4	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0012759	HP:0031936	Delayed ability to walk	4	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0012759	HP:0025336	Delayed ability to sit	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0031936	Delayed ability to walk	4	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0012759	HP:0031936	Delayed ability to walk	4	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012759	HP:0031936	Delayed ability to walk	4	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0031936	Delayed ability to walk	4	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0012759	HP:0031936	Delayed ability to walk	4	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0012759	HP:0031936	Delayed ability to walk	4	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0012759	HP:0031936	Delayed ability to walk	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0012759	HP:0031936	Delayed ability to walk	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012759	HP:0025336	Delayed ability to sit	4	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0031936	Delayed ability to walk	4	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012759	HP:0031936	Delayed ability to walk	4	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012759	HP:0031936	Delayed ability to walk	4	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012759	HP:0031936	Delayed ability to walk	4	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0012759	HP:0025335	Delayed ability to stand	4	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0012759	HP:0025336	Delayed ability to sit	4	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0012759	HP:0031936	Delayed ability to walk	4	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0012759	HP:0025336	Delayed ability to sit	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0031936	Delayed ability to walk	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012759	HP:0031936	Delayed ability to walk	4	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0012759	HP:0025336	Delayed ability to sit	4	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0031936	Delayed ability to walk	4	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012759	HP:0011352	Severe receptive language delay	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012759	HP:0031936	Delayed ability to walk	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012759	HP:0006863	Severe expressive language delay	4	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0012759	HP:0031936	Delayed ability to walk	4	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0012759	HP:0025336	Delayed ability to sit	4	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0031936	Delayed ability to walk	4	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012759	HP:0031936	Delayed ability to walk	4	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent		108
HP:0012759	HP:0025336	Delayed ability to sit	4	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0012759	HP:0025336	Delayed ability to sit	4	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0012759	HP:0025336	Delayed ability to sit	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0031936	Delayed ability to walk	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012759	HP:0031936	Delayed ability to walk	4	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0012759	HP:0031936	Delayed ability to walk	4	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.		11
HP:0012759	HP:0006863	Severe expressive language delay	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0012759	HP:0031936	Delayed ability to walk	4	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0012759	HP:0033128	Delayed ability to crawl	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0025336	Delayed ability to sit	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0031936	Delayed ability to walk	4	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0012759	HP:0025336	Delayed ability to sit	4	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0031936	Delayed ability to walk	4	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0012759	HP:0031936	Delayed ability to walk	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0012759	HP:0031936	Delayed ability to walk	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0012759	HP:0031936	Delayed ability to walk	4	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0012759	HP:0031936	Delayed ability to walk	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0012759	HP:0031936	Delayed ability to walk	4	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012759	HP:0025336	Delayed ability to sit	4	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0031936	Delayed ability to walk	4	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0012759	HP:0031936	Delayed ability to walk	4	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0012759	HP:0025335	Delayed ability to stand	4	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0012759	HP:0031936	Delayed ability to walk	4	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0012759	HP:0031936	Delayed ability to walk	4	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012759	HP:0031936	Delayed ability to walk	4	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012759	HP:0025336	Delayed ability to sit	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0031936	Delayed ability to walk	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012759	HP:0031936	Delayed ability to walk	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0012759	HP:0031936	Delayed ability to walk	4	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0012759	HP:0031936	Delayed ability to walk	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0012759	HP:0025335	Delayed ability to stand	4	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012759	HP:0031936	Delayed ability to walk	4	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0012759	HP:0006863	Severe expressive language delay	4	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0012759	HP:0011351	Moderate receptive language delay	4	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0012759	HP:0031936	Delayed ability to walk	4	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0012759	HP:0031936	Delayed ability to walk	4	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0012759	HP:0025336	Delayed ability to sit	4	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0031936	Delayed ability to walk	4	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0012759	HP:0031936	Delayed ability to walk	4	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0012759	HP:0031936	Delayed ability to walk	4	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0012759	HP:0031936	Delayed ability to walk	4	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0012759	HP:0031936	Delayed ability to walk	4	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0012759	HP:0031936	Delayed ability to walk	4	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0012759	HP:0025336	Delayed ability to sit	4	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0031936	Delayed ability to walk	4	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0012759	HP:0031936	Delayed ability to walk	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0012759	HP:0031936	Delayed ability to walk	4	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0012759	HP:0025336	Delayed ability to sit	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0012759	HP:0031936	Delayed ability to walk	4	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0012759	HP:0031936	Delayed ability to walk	4	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0012759	HP:0033128	Delayed ability to crawl	4	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0025336	Delayed ability to sit	4	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012759	HP:0032989	Delayed ability to roll over	4	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0025336	Delayed ability to sit	4	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0031936	Delayed ability to walk	4	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0012759	HP:0025336	Delayed ability to sit	4	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0031936	Delayed ability to walk	4	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0012759	HP:0025336	Delayed ability to sit	4	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0031936	Delayed ability to walk	4	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0012759	HP:0031936	Delayed ability to walk	4	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0012759	HP:0031936	Delayed ability to walk	4	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0012759	HP:0025336	Delayed ability to sit	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0031936	Delayed ability to walk	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0012759	HP:0025335	Delayed ability to stand	4	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012759	HP:0031936	Delayed ability to walk	4	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0012759	HP:0031936	Delayed ability to walk	4	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012759	HP:0031936	Delayed ability to walk	4	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012759	HP:0032989	Delayed ability to roll over	4	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0033128	Delayed ability to crawl	4	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0031936	Delayed ability to walk	4	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012759	HP:0031936	Delayed ability to walk	4	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012759	HP:0031936	Delayed ability to walk	4	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0012759	HP:0031936	Delayed ability to walk	4	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0012759	HP:0031936	Delayed ability to walk	4	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0012759	HP:0025336	Delayed ability to sit	4	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0031936	Delayed ability to walk	4	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012759	HP:0025336	Delayed ability to sit	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0031936	Delayed ability to walk	4	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012759	HP:0031936	Delayed ability to walk	4	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0012759	HP:0031936	Delayed ability to walk	4	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0012759	HP:0031936	Delayed ability to walk	4	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012759	HP:0031936	Delayed ability to walk	4	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0012759	HP:0031936	Delayed ability to walk	4	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.		7
HP:0012759	HP:0032989	Delayed ability to roll over	4	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012759	HP:0025336	Delayed ability to sit	4	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012759	HP:0031936	Delayed ability to walk	4	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0012759	HP:0025336	Delayed ability to sit	4	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0012759	HP:0031936	Delayed ability to walk	4	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0012759	HP:0031936	Delayed ability to walk	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0012759	HP:0025336	Delayed ability to sit	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0012759	HP:0031936	Delayed ability to walk	4	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012759	HP:0031936	Delayed ability to walk	4	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0012759	HP:0031936	Delayed ability to walk	4	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012759	HP:0031936	Delayed ability to walk	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012759	HP:0025336	Delayed ability to sit	4	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0031936	Delayed ability to walk	4	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0012759	HP:0031936	Delayed ability to walk	4	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0012759	HP:0031936	Delayed ability to walk	4	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0012759	HP:0025336	Delayed ability to sit	4	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0012759	HP:0031936	Delayed ability to walk	4	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0012759	HP:0031936	Delayed ability to walk	4	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0012759	HP:0025336	Delayed ability to sit	4	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0031936	Delayed ability to walk	4	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0012759	HP:0032989	Delayed ability to roll over	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0033128	Delayed ability to crawl	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0025336	Delayed ability to sit	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0031936	Delayed ability to walk	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012759	HP:0025335	Delayed ability to stand	4	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0012759	HP:0031936	Delayed ability to walk	4	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0012759	HP:0031936	Delayed ability to walk	4	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.		77
HP:0012759	HP:0031936	Delayed ability to walk	4	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0031936	Delayed ability to walk	4	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0012759	HP:0031936	Delayed ability to walk	4	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0012759	HP:0025336	Delayed ability to sit	4	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent		60
HP:0012759	HP:0031936	Delayed ability to walk	4	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0012759	HP:0031936	Delayed ability to walk	4	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0012759	HP:0031936	Delayed ability to walk	4	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040284 - Very rare		65
HP:0012759	HP:0006863	Severe expressive language delay	4	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0012759	HP:0031936	Delayed ability to walk	4	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012759	HP:0025336	Delayed ability to sit	4	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0031936	Delayed ability to walk	4	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012759	HP:0031936	Delayed ability to walk	4	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012759	HP:0025336	Delayed ability to sit	4	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0012759	HP:0031936	Delayed ability to walk	4	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0012759	HP:0031936	Delayed ability to walk	4	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0012759	HP:0031936	Delayed ability to walk	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent		10
HP:0012759	HP:0031936	Delayed ability to walk	4	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012759	HP:0031936	Delayed ability to walk	4	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0012759	HP:0031936	Delayed ability to walk	4	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HP:0040284 - Very rare
HP:0012759	HP:0031936	Delayed ability to walk	4	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0012759	HP:0031936	Delayed ability to walk	4	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0012759	HP:0025336	Delayed ability to sit	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0031936	Delayed ability to walk	4	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0012759	HP:0031936	Delayed ability to walk	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent		150
HP:0012759	HP:0031936	Delayed ability to walk	4	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0012759	HP:0033128	Delayed ability to crawl	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0025336	Delayed ability to sit	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0031936	Delayed ability to walk	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012759	HP:0031936	Delayed ability to walk	4	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0012759	HP:0025336	Delayed ability to sit	4	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0012759	HP:0031936	Delayed ability to walk	4	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0012759	HP:0031936	Delayed ability to walk	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0012759	HP:0006863	Severe expressive language delay	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0012759	HP:0031936	Delayed ability to walk	4	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0012759	HP:0031936	Delayed ability to walk	4	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0012759	HP:0031936	Delayed ability to walk	4	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012759	HP:0031936	Delayed ability to walk	4	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012759	HP:0025336	Delayed ability to sit	4	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0031936	Delayed ability to walk	4	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0012759	HP:0025335	Delayed ability to stand	4	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0012759	HP:0025335	Delayed ability to stand	4	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0025336	Delayed ability to sit	4	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0031936	Delayed ability to walk	4	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012759	HP:0031936	Delayed ability to walk	4	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0012759	HP:0031936	Delayed ability to walk	4	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0012759	HP:0031936	Delayed ability to walk	4	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0012759	HP:0011351	Moderate receptive language delay	4	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0006863	Severe expressive language delay	4	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0011351	Moderate receptive language delay	4	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012759	HP:0031936	Delayed ability to walk	4	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0012759	HP:0031936	Delayed ability to walk	4	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0012759	HP:0031936	Delayed ability to walk	4	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0012759	HP:0025336	Delayed ability to sit	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0012759	HP:0025336	Delayed ability to sit	4	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0012759	HP:0032989	Delayed ability to roll over	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012759	HP:0025336	Delayed ability to sit	4	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0012759	HP:0031936	Delayed ability to walk	4	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0012759	HP:0031936	Delayed ability to walk	4	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0012759	HP:0031936	Delayed ability to walk	4	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0012759	HP:0031936	Delayed ability to walk	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0012759	HP:0031936	Delayed ability to walk	4	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0012759	HP:0031936	Delayed ability to walk	4	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0012759	HP:0025336	Delayed ability to sit	4	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0012759	HP:0032989	Delayed ability to roll over	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0033128	Delayed ability to crawl	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0025336	Delayed ability to sit	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0031936	Delayed ability to walk	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0012759	HP:0006863	Severe expressive language delay	4	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0011352	Severe receptive language delay	4	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0012759	HP:0031936	Delayed ability to walk	4	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0012759	HP:0031936	Delayed ability to walk	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0012759	HP:0031936	Delayed ability to walk	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0012759	HP:0031936	Delayed ability to walk	4	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0012759	HP:0031936	Delayed ability to walk	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0012759	HP:0031936	Delayed ability to walk	4	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0012759	HP:0031936	Delayed ability to walk	4	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0012759	HP:0006863	Severe expressive language delay	4	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent		21
HP:0012759	HP:0032989	Delayed ability to roll over	4	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0025336	Delayed ability to sit	4	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0012759	HP:0031936	Delayed ability to walk	4	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012759	HP:0031936	Delayed ability to walk	4	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012759	HP:0031936	Delayed ability to walk	4	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012759	HP:0031936	Delayed ability to walk	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012759	HP:0031936	Delayed ability to walk	4	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0012759	HP:0031936	Delayed ability to walk	4	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012759	HP:0031936	Delayed ability to walk	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0012759	HP:0031936	Delayed ability to walk	4	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040284 - Very rare		71
HP:0012759	HP:0031936	Delayed ability to walk	4	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0012759	HP:0031936	Delayed ability to walk	4	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0012759	HP:0031936	Delayed ability to walk	4	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0012759	HP:0025336	Delayed ability to sit	4	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0031936	Delayed ability to walk	4	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012759	HP:0025336	Delayed ability to sit	4	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0031936	Delayed ability to walk	4	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0012759	HP:0031936	Delayed ability to walk	4	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0012759	HP:0031936	Delayed ability to walk	4	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0012759	HP:0031936	Delayed ability to walk	4	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0012759	HP:0031936	Delayed ability to walk	4	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0012759	HP:0025335	Delayed ability to stand	4	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0025336	Delayed ability to sit	4	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0012759	HP:0031936	Delayed ability to walk	4	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0012759	HP:0025336	Delayed ability to sit	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0012759	HP:0031936	Delayed ability to walk	4	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0012759	HP:0025336	Delayed ability to sit	4	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012759	HP:0032989	Delayed ability to roll over	4	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0025336	Delayed ability to sit	4	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0012759	HP:0025336	Delayed ability to sit	4	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012759	HP:0025336	Delayed ability to sit	4	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0031936	Delayed ability to walk	4	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012759	HP:0031936	Delayed ability to walk	4	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0012759	HP:0025336	Delayed ability to sit	4	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0031936	Delayed ability to walk	4	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0012759	HP:0031936	Delayed ability to walk	4	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0012759	HP:0031936	Delayed ability to walk	4	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0012759	HP:0031936	Delayed ability to walk	4	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0012759	HP:0032989	Delayed ability to roll over	4	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012759	HP:0031936	Delayed ability to walk	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0012759	HP:0031936	Delayed ability to walk	4	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0012759	HP:0031936	Delayed ability to walk	4	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012759	HP:0031936	Delayed ability to walk	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0012759	HP:0031936	Delayed ability to walk	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0012759	HP:0031936	Delayed ability to walk	4	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0012759	HP:0025335	Delayed ability to stand	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0031936	Delayed ability to walk	4	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0012759	HP:0031936	Delayed ability to walk	4	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5

Genes (2766) :AAAS AARS1 AARS2 AASS ABAT ABCA2 ABCA4 ABCA7 ABCB7 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABHD16A ABHD5 ABL1 ACAD8 ACADM ACADS ACADSB ACAN ACAT1 ACAT2 ACBD5 ACD ACER3 ACO2 ACOX1 ACOX2 ACP5 ACSF3 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACTL6B ACTN2 ACVR1 ACY1 ADA ADA2 ADAM22 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADARB1 ADAT3 ADCY3 ADCY5 ADD3 ADGRG1 ADGRL1 ADGRV1 ADH5 ADK ADNP ADPRS ADRA2B ADSL AEBP1 AFF2 AFF3 AFF4 AFG3L2 AGA AGBL5 AGGF1 AGK AGL AGO2 AGPAT2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP1 AIMP2 AIPL1 AK9 AKT1 AKT3 ALAD ALB ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALS2 ALX1 ALX3 ALX4 AMACR AMER1 AMMECR1 AMN AMPD2 AMT ANAPC1 ANAPC7 ANK1 ANK3 ANKLE2 ANKRD11 ANKRD17 ANO10 ANTXR1 AP1B1 AP1G1 AP1S1 AP1S2 AP2M1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APP AQP2 ARCN1 ARF1 ARFGEF1 ARFGEF2 ARG1 ARHGAP29 ARHGAP31 ARHGDIA ARHGEF18 ARHGEF2 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARSA ARSI ARSL ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASH1L ASL ASNS ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATG7 ATIC ATL1 ATM ATN1 ATP10A ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP2A2 ATP2B1 ATP2B3 ATP5F1D ATP5F1E ATP5MK ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATPAF2 ATR ATRIP ATRX ATXN3 ATXN7 AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCKDHA BCKDHB BCKDK BCL11A BCL11B BCL7B BCOR BCORL1 BCR BCS1L BDNF BEST1 BICD2 BICRA BIN1 BLM BLTP1 BMP1 BMP2 BMP4 BMPER BMPR1A BMPR1B BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BUB1 BUB1B BUB3 BUD23 C12ORF4 C12ORF57 C18ORF32 C19ORF12 C2CD3 C2ORF69 C4A C9ORF72 CA2 CA4 CA5A CA8 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1H CACNA2D1 CACNA2D2 CACNG2 CAD CADM3 CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARS1 CARS2 CASK CASZ1 CAV1 CAVIN1 CBL CBS CBY1 CC2D1A CC2D2A CCBE1 CCDC103 CCDC115 CCDC134 CCDC174 CCDC22 CCDC28B CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCDC78 CCDC88A CCDC88C CCND2 CCNK CCNO CCR1 CD109 CD40LG CD96 CDC40 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH15 CDH2 CDH23 CDHR1 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDKN1C CDON CDT1 CELF2 CENPE CENPJ CENPT CEP104 CEP120 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP57 CEP63 CEP83 CEP85L CERKL CERS1 CERT1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP43 CFL2 CHAMP1 CHAT CHCHD10 CHD1 CHD2 CHD3 CHD4 CHD5 CHD7 CHD8 CHKA CHKB CHMP1A CHMP2B CHN1 CHP1 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHST14 CHST3 CHSY1 CIB2 CIC CISD2 CIT CKAP2L CLCN3 CLCN4 CLCN6 CLCN7 CLCNKA CLCNKB CLDN11 CLIC2 CLIP2 CLN3 CLN5 CLN8 CLP1 CLPB CLRN1 CLTC CLTCL1 CLTRN CNGA1 CNGB1 CNKSR2 CNNM2 CNOT1 CNOT2 CNOT3 CNP CNPY3 CNTN2 CNTNAP2 COA3 COA8 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL12A1 COL13A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A3 COLEC10 COLEC11 COLGALT1 COLQ COMT COPB1 COPB2 COQ2 COQ4 COQ5 COQ7 COQ8A COQ9 CORO1A COX1 COX10 COX15 COX2 COX20 COX3 COX4I1 COX4I2 COX7B COX8A CPA6 CPE CPLANE1 CPLX1 CPS1 CPSF3 CRADD CRAT CRB1 CRBN CREBBP CRH CRIPT CRKL CRLF1 CRPPA CRX CSF1R CSGALNACT1 CSNK2A1 CSNK2B CSPP1 CSTB CTBP1 CTC1 CTCF CTDP1 CTH CTNNA2 CTNNB1 CTNND2 CTNS CTSA CTSD CTSK CUBN CUL3 CUL4B CUX1 CUX2 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYLD CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP2U1 CYP3A4 D2HGDH DACT1 DAG1 DALRD3 DARS1 DARS2 DBR1 DBT DCAF17 DCC DCDC2 DCHS1 DCPS DCX DDB1 DDB2 DDC DDHD2 DDOST DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DEPDC5 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHFR DHPS DHTKD1 DHX16 DHX30 DHX37 DHX38 DIAPH1 DICER1 DIP2B DIS3L2 DISP1 DKC1 DLAT DLD DLG1 DLG3 DLG4 DLK1 DLL1 DLL3 DLL4 DLX4 DLX5 DMD DMPK DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAJC6 DNAL1 DNAL4 DNASE2 DNM1 DNM1L DNM2 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOHH DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPM3 DPP6 DPYD DPYS DPYSL5 DRC1 DSE DSG4 DST DSTYK DTYMK DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYNC2LI1 DYRK1A EARS2 EBF3 EBP ECE1 ECHS1 EDC3 EDEM3 EDN1 EDN3 EDNRB EED EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EGF EGR2 EHMT1 EIF2AK1 EIF2AK2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF4A3 EIF4H ELAC2 ELMO2 ELN ELOVL1 ELOVL4 ELP2 EMC1 EMC10 EMG1 EMILIN1 EML1 EN1 ENPP1 ENTPD1 EOGT EP300 EPB41L1 EPCAM EPG5 EPRS1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESPN ESS2 ETHE1 EVC EVC2 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FA2H FAM111A FAM149B1 FAM161A FAM20C FAM50A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAS FASTKD2 FAT4 FBLN1 FBLN5 FBN1 FBN2 FBP1 FBXL3 FBXL4 FBXO11 FBXO28 FBXO31 FBXW11 FBXW7 FCSK FDFT1 FDX2 FDXR FGD1 FGD4 FGF10 FGF12 FGF13 FGF14 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FITM2 FKBP14 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT1 FLT4 FLVCR1 FLVCR2 FMN2 FMR1 FNIP1 FOCAD FOLR1 FOS FOXA2 FOXE1 FOXF1 FOXG1 FOXH1 FOXI1 FOXJ1 FOXP1 FOXP2 FOXP3 FOXRED1 FRA16E FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMD5 FRMPD4 FRRS1L FSCN2 FTCD FTO FTSJ1 FUCA1 FUS FUT8 FUZ FXR1 FZD2 FZD4 FZR1 G6PC3 GAA GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GALK1 GALNS GALNT2 GALT GAMT GAN GARS1 GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA6 GATAD2B GATM GBA1 GBA2 GBE1 GBF1 GCDH GCH1 GCK GCLC GCSH GDAP1 GDF6 GDI1 GDNF GEMIN4 GEMIN5 GFAP GFER GFM1 GFM2 GFPT1 GGPS1 GGT1 GHR GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLA GLB1 GLDC GLE1 GLI1 GLI2 GLI3 GLIS3 GLRA1 GLRA2 GLRB GLRX5 GLS GLUD1 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNAI1 GNAI3 GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNE GNPAT GNPTAB GNPTG GNS GON7 GORAB GOT2 GP1BA GP1BB GPAA1 GPC3 GPC4 GPC6 GPHN GPI GPR161 GPR88 GPSM2 GPT2 GRB10 GRHL3 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM1 GRM7 GRN GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1B GUCY2D GUF1 GUSB GYS2 H1-4 H19 H19-ICR H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HAAO HACD1 HACE1 HADH HADHA HADHB HAL HARS1 HAX1 HBA1 HBA2 HCCS HCFC1 HCN1 HCN4 HDAC4 HDAC6 HDAC8 HEATR3 HECW2 HELLS HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEXB HGSNAT HHAT HIBCH HID1 HIKESHI HINT1 HIRA HIVEP2 HK1 HLA-B HLCS HMGA2 HMGB3 HMGCL HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA1 HOXA2 HOXB1 HPD HPDL HPRT1 HPS6 HRAS HS2ST1 HS6ST2 HSD17B10 HSD17B4 HSD3B2 HSPA9 HSPD1 HSPG2 HTT HUWE1 HYCC1 HYDIN HYLS1 HYMAI IARS1 IARS2 IBA57 IDH1 IDH2 IDH3A IDH3B IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT27 IFT52 IFT74 IFT88 IGBP1 IGF1 IGF1R IGF2 IKBKG IL10 IL12A IL12A-AS1 IL1RAPL1 IL1RN IL23R IL37 IL6ST IMPA1 IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INPPL1 INS INSR INTS1 INTS8 INTU INVS IPO8 IPW IQCB1 IQSEC1 IQSEC2 IREB2 IRF2BPL IRF4 IRF6 IRX5 ISCA1 ISCA2 ITCH ITGA2 ITGA2B ITGA7 ITGB3 ITGB6 ITPA ITPR1 IVD IYD JAG1 JAG2 JAM3 JMJD1C JRK KANK1 KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNC3 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN2 KCNN3 KCNQ1OT1 KCNQ2 KCNQ5 KCNT1 KCNT2 KCTD7 KDELR2 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDSR KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1C KIF2A KIF4A KIF5A KIF5C KIF7 KIFBP KIT KIZ KLC2 KLF13 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KRT14 KRT5 KRT81 KRT83 KRT86 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMC3 LAMP2 LARGE1 LARP7 LARS1 LARS2 LAS1L LBR LCA5 LDHD LEMD3 LETM1 LFNG LGI3 LHX1 LHX3 LHX4 LIAS LIG1 LIG3 LIG4 LIMK1 LINGO1 LINS1 LIPA LIPT1 LIPT2 LMAN2L LMBR1 LMBRD1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1B LNPK LONP1 LRAT LRP2 LRP4 LRP5 LRPPRC LRRC32 LRRC56 LRRK1 LSM11 LSS LTBP1 LTBP2 LTBP4 LTC4S LUZP1 LYRM4 LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MACF1 MAD2L2 MADD MAF MAFB MAG MAGEL2 MAGT1 MAK MAN1B1 MAN2B1 MAN2C1 MANBA MAOA MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK10 MAPK8IP3 MAPKAPK5 MAPRE2 MAPT MARCHF6 MARS1 MARS2 MASP1 MAST1 MAT1A MBD5 MBOAT7 MBTPS2 MC2R MCCC1 MCCC2 MCEE MCIDAS MCM3AP MCM4 MCM7 MCOLN1 MCPH1 MCTP2 MDH1 MDH2 MECOM MECP2 MECR MED12 MED12L MED13 MED13L MED17 MED23 MED25 MED27 MEF2C MEFV MEG3 MEGF10 MEGF8 MEIS2 MERTK MESD MESP2 METTL23 METTL27 METTL5 MFF MFN2 MFSD2A MFSD8 MGAT2 MGME1 MGP MIA3 MICOS13 MICU1 MID1 MID2 MINPP1 MIPEP MIR17HG MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLIP MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMP13 MMP14 MMP2 MMP23B MMUT MN1 MNX1 MOCS1 MOCS2 MOGS MORC2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRAP MRAS MRE11 MRM2 MRPL12 MRPL3 MRPS14 MRPS2 MRPS22 MRPS25 MRPS34 MSH2 MSH6 MSL3 MSMO1 MSTO1 MSX1 MSX2 MTFMT MTHFD1 MTHFR MTHFS MTM1 MTMR14 MTMR2 MTO1 MTOR MTPAP MTR MTRFR MTRR MTSS2 MUSK MVK MYCN MYF6 MYH3 MYH7 MYL1 MYL2 MYMK MYMX MYO18B MYO1H MYO5A MYO5B MYO7A MYO9A MYOD1 MYPN MYRF MYSM1 MYT1L NAA10 NAA15 NAA20 NACC1 NADK2 NAGA NAGLU NAGS NALCN NANS NAPB NARS1 NARS2 NAT8L NAXD NAXE NBEA NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCDN NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDN NDP NDRG1 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEDD4L NEFL NEK1 NEK10 NEK2 NELFA NEMF NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFE2L2 NFIA NFIX NFKB2 NFU1 NGF NGLY1 NHLRC2 NHP2 NHS NIN NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX3-2 NKX6-2 NLGN1 NLGN3 NLGN4X NLRP3 NME8 NMNAT1 NNT NODAL NONO NOP10 NOTCH1 NOTCH3 NOVA2 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPM1 NPRL2 NPRL3 NR2E3 NR2F1 NR4A2 NRAS NRCAM NRL NRROS NRTN NRXN1 NSD1 NSD2 NSDHL NSF NSMCE3 NSRP1 NSUN2 NSUN3 NT5C2 NTN1 NTNG1 NTNG2 NTRK1 NTRK2 NUBPL NUDT2 NUP107 NUP133 NUP214 NUP62 NUP85 NUS1 NXN OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OGDHL OGT OPA1 OPA3 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTC OTUD5 OTUD6B OTX2 P3H1 P4HB P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK2 PAK3 PALB2 PAM16 PANK2 PAPPA2 PARN PARS2 PAX1 PAX2 PAX3 PAX6 PAX7 PAX8 PBX1 PC PCARE PCBD1 PCCA PCCB PCDH12 PCDH15 PCDH19 PCDHGC4 PCGF2 PCK1 PCLO PCNA PCNT PCYT1A PCYT2 PDCD6IP PDE10A PDE2A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDGFRA PDGFRB PDHA1 PDHB PDHX PDK3 PDP1 PDPN PDSS1 PDSS2 PDX1 PDZD8 PEPD PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PHACTR1 PHC1 PHEX PHF21A PHF6 PHF8 PHGDH PHIP PHKA2 PHKB PHKG2 PHOX2B PHYH PI4KA PIBF1 PIDD1 PIEZO1 PIEZO2 PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PISD PITRM1 PITX3 PLA2G6 PLAA PLAG1 PLAGL1 PLCB1 PLCB3 PLCB4 PLCH1 PLEC PLEKHG2 PLK4 PLOD1 PLOD3 PLP1 PLPBP PLXNA1 PLXND1 PMM2 PMP22 PMPCA PMPCB PMS1 PMS2 PNKP PNP PNPLA2 PNPLA6 PNPO PNPT1 POC1A PODXL POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLR3GL POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 POU3F4 POU4F1 PPARG PPFIBP1 PPIL1 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM13 PRDM16 PRDX1 PREPL PRF1 PRICKLE1 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRKRA PRMT7 PRNP PROC PRODH PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMB1 PSMB8 PSMC1 PSMC3 PSMD12 PSMG2 PSPH PTCD3 PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTH1R PTPN11 PTPN23 PTPRQ PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 PYGL QARS1 QDPR QRICH1 RAB11B RAB18 RAB23 RAB39B RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC3 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RALA RALGAPA1 RANBP2 RAPSN RARB RARS1 RARS2 RB1 RBBP8 RBL2 RBM10 RBM28 RBM8A RBMX RBP3 RBPJ RCBTB1 RD3 RDH11 RDH12 RECQL4 REEP1 REEP6 RELN REPS1 RERE RET REV3L RFC1 RFC2 RFT1 RFWD3 RGR RHO RHOBTB2 RIC1 RIMS2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF13 RNF135 RNF168 RNF170 RNF2 RNF213 RNF220 RNU12 RNU4ATAC RNU7-1 ROBO1 ROBO3 ROGDI ROM1 ROR2 RORA RORB RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS2 RREB1 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTEL1 RTL1 RTN4IP1 RTTN RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SALL1 SALL4 SAMD12 SAMD9 SAMHD1 SAR1B SARDH SARS1 SASS6 SATB1 SATB2 SBDS SBF2 SC5D SCAPER SCARB2 SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCNM1 SCO2 SCUBE3 SCYL1 SCYL2 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SECISBP2 SELENOI SELENON SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEMA6B SEPSECS SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B2 SF3B4 SFTPC SFXN4 SGCB SGMS2 SGPL1 SGSH SH2B1 SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHQ1 SHROOM4 SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIN3B SIX1 SIX3 SIX6 SKI SKIC2 SKIC3 SLC10A7 SLC12A1 SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A26 SLC25A4 SLC25A42 SLC25A46 SLC26A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A3 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC37A4 SLC38A3 SLC39A13 SLC39A14 SLC39A8 SLC3A1 SLC44A1 SLC45A1 SLC46A1 SLC4A4 SLC5A5 SLC5A6 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A20 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A14 SLC7A7 SLC9A1 SLC9A6 SLC9A7 SLITRK6 SLX4 SMAD2 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMG9 SMO SMOC1 SMPD1 SMPD4 SMS SNAI2 SNAP25 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNORD118 SNRNP200 SNRPB SNRPN SNX14 SOBP SOD1 SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX5 SOX6 SOX9 SP7 SPAG1 SPARC SPART SPAST SPATA5 SPATA5L1 SPATA7 SPECC1L SPEF2 SPEG SPEN SPG11 SPG21 SPG7 SPINK5 SPOP SPR SPRED1 SPRED2 SPTAN1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQSTM1 SRCAP SRD5A3 SREBF1 SRP54 SRPX2 SRY SSR4 ST3GAL3 ST3GAL5 STAC3 STAG1 STAG2 STAMBP STAR STARD7 STAT2 STAT3 STAT4 STEEP1 STIL STIM1 STK36 STRA6 STRADA STS STT3A STT3B STUB1 STX11 STX1A STX1B STX3 STXBP1 SUCLA2 SUCLG1 SUFU SUGCT SUMF1 SUOX SUPT16H SURF1 SUZ12 SVBP SYN1 SYNE1 SYNGAP1 SYNJ1 SYP SYT1 SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TAF1 TAF13 TAF2 TAF6 TAF8 TAFAZZIN TALDO1 TANC2 TANGO2 TAOK1 TARDBP TARS1 TARS2 TASP1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBR1 TBX1 TBX2 TBX4 TCF12 TCF20 TCF4 TCIRG1 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TECR TELO2 TENM3 TENT5A TERC TERT TET2 TET3 TFAP2A TFAP2B TFE3 TFG TG TGDS TGFB1 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM6 TH THG1L THOC2 THOC6 THRB THUMPD1 TIAM1 TIMM50 TIMM8A TIMMDC1 TINF2 TK2 TKFC TKT TLK2 TLR3 TLR4 TM4SF20 TMCO1 TMEM106B TMEM107 TMEM126B TMEM138 TMEM147 TMEM165 TMEM185A TMEM199 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM38B TMEM53 TMEM63A TMEM63C TMEM67 TMEM70 TMEM94 TMLHE TMPRSS6 TMTC3 TMX2 TNFRSF11A TNFRSF11B TNIK TNNT1 TNPO2 TNPO3 TNR TNRC6B TOE1 TOGARAM1 TOMM40 TONSL TOP3A TOPORS TOR1A TP53 TP53RK TP63 TPI1 TPK1 TPM2 TPM3 TPO TPP1 TPP2 TPRKB TPRN TRAF3IP1 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREM2 TREX1 TRH TRHR TRIM2 TRIM32 TRIM37 TRIM71 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRMU TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRPS1 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHB TSHR TSPAN12 TSPAN7 TSPOAP1 TSR2 TTC12 TTC19 TTC26 TTC5 TTC8 TTI2 TTN TTPA TUB TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP4 TUBGCP6 TUFM TULP1 TUSC3 TWIST1 TWIST2 TWNK TXN2 TXNRD2 TYMP TYMS TYROBP UBA2 UBA5 UBAC2 UBB UBE2A UBE2T UBE3A UBE3B UBE4A UBE4B UBR1 UBR7 UBTF UCP2 UFC1 UFD1 UFM1 UFSP2 UGDH UGP2 UGT1A1 UMPS UNC45A UNC80 UPB1 UPF3B UQCC2 UQCC3 UQCRC2 UQCRFS1 UQCRQ UROC1 USB1 USF3 USH1C USH1G USH2A USP27X USP45 USP7 USP8 USP9X VAC14 VAMP1 VAMP2 VARS1 VARS2 VAX1 VCP VDR VIPAS39 VLDLR VMA21 VPS11 VPS13B VPS13D VPS16 VPS33A VPS33B VPS35L VPS37A VPS37D VPS41 VPS45 VPS4A VPS50 VPS51 VPS53 VRK1 VWA3B WAC WARS2 WAS WASF1 WASHC4 WASHC5 WBP11 WDFY3 WDPCP WDR1 WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WIPF1 WIPI2 WLS WNT1 WNT5A WRAP53 WT1 WWOX XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YARS2 YEATS2 YIF1B YIPF5 YME1L1 YWHAE YWHAG YY1 YY1AP1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZBTB7A ZC3H14 ZC4H2 ZDHHC9 ZEB2 ZFHX4 ZFP57 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF148 ZNF292 ZNF335 ZNF407 ZNF408 ZNF423 ZNF462 ZNF513 ZNF526 ZNF592 ZNF699 ZNF711 ZNFX1 ZNHIT3 ZPR1 ZSWIM6

Diseases (3544) :OMIM:231550 ORPHA:869 OMIM:616339 ORPHA:442835 OMIM:619691 OMIM:614096 ORPHA:2203 OMIM:238700 ORPHA:3124 OMIM:613163 OMIM:618808 ORPHA:791 ORPHA:1020 ORPHA:2802 ORPHA:51608 ORPHA:276575 ORPHA:79134 OMIM:618857 OMIM:256450 OMIM:240800 ORPHA:99885 ORPHA:99886 OMIM:239850 ORPHA:1517 ORPHA:388 ORPHA:139396 OMIM:614857 OMIM:619735 OMIM:275630 ORPHA:98907 OMIM:617602 ORPHA:79159 OMIM:201450 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:610006 ORPHA:435804 OMIM:203750 ORPHA:134 OMIM:614055 OMIM:618863 OMIM:616553 ORPHA:3322 OMIM:617762 OMIM:614559 OMIM:618960 ORPHA:2971 OMIM:264470 OMIM:617308 ORPHA:1855 OMIM:607944 ORPHA:289504 OMIM:614265 ORPHA:86818 OMIM:300387 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:161800 ORPHA:97244 ORPHA:171430 ORPHA:97240 ORPHA:2573 ORPHA:2995 OMIM:243310 ORPHA:79107 OMIM:607371 OMIM:614583 OMIM:618468 OMIM:618470 OMIM:618654 ORPHA:337 OMIM:135100 OMIM:609924 ORPHA:137754 OMIM:102700 ORPHA:124 ORPHA:820 OMIM:617933 ORPHA:3449 OMIM:277600 OMIM:225410 ORPHA:2136 OMIM:231050 ORPHA:51 OMIM:615010 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:617885 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 OMIM:617008 ORPHA:101070 ORPHA:98889 OMIM:606854 OMIM:615752 OMIM:620065 ORPHA:36387 OMIM:619151 OMIM:614300 ORPHA:404448 OMIM:615873 OMIM:618170 ORPHA:86814 OMIM:103050 ORPHA:46 ORPHA:536532 ORPHA:100973 OMIM:309548 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:313772 OMIM:208400 ORPHA:93 ORPHA:90308 OMIM:212350 ORPHA:366 OMIM:619149 ORPHA:528 ORPHA:98913 ORPHA:98914 OMIM:618276 ORPHA:2254 OMIM:613752 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2850 OMIM:203650 OMIM:300816 OMIM:310490 ORPHA:83629 ORPHA:238329 OMIM:300232 ORPHA:101078 OMIM:260600 OMIM:618006 ORPHA:65 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 ORPHA:99802 OMIM:615937 ORPHA:100924 OMIM:616000 ORPHA:86816 ORPHA:35664 ORPHA:90348 ORPHA:447760 OMIM:616603 OMIM:219150 OMIM:601162 OMIM:616586 ORPHA:816 OMIM:270200 ORPHA:79101 OMIM:239510 OMIM:271980 ORPHA:22 OMIM:614105 OMIM:266100 ORPHA:3006 ORPHA:57 OMIM:611881 OMIM:229600 ORPHA:79327 OMIM:608540 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 ORPHA:324422 OMIM:300884 ORPHA:353327 OMIM:619031 ORPHA:79326 OMIM:607906 OMIM:616228 ORPHA:79321 OMIM:601110 ORPHA:79320 OMIM:603147 ORPHA:79325 ORPHA:79328 OMIM:608776 OMIM:618504 ORPHA:64 OMIM:203800 OMIM:242100 OMIM:205100 ORPHA:300605 OMIM:607225 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:60015 OMIM:613451 ORPHA:228390 ORPHA:52022 ORPHA:79095 OMIM:300373 ORPHA:2780 OMIM:300990 ORPHA:35858 ORPHA:401805 OMIM:615809 OMIM:615686 OMIM:605899 ORPHA:221008 OMIM:618625 OMIM:619699 ORPHA:251066 ORPHA:356996 OMIM:615493 ORPHA:2512 OMIM:616681 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:619504 ORPHA:284289 OMIM:613728 OMIM:230740 OMIM:242150 ORPHA:171851 OMIM:619467 OMIM:619548 OMIM:609313 ORPHA:85335 OMIM:304340 ORPHA:85329 OMIM:618587 ORPHA:1942 OMIM:608233 OMIM:617276 OMIM:617050 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 ORPHA:261584 ORPHA:79665 OMIM:618677 ORPHA:821 OMIM:617169 ORPHA:324703 OMIM:125800 ORPHA:223 OMIM:617164 OMIM:618185 OMIM:619964 OMIM:608097 OMIM:207800 ORPHA:90 ORPHA:199306 ORPHA:974 OMIM:100300 OMIM:615244 OMIM:617523 OMIM:300607 ORPHA:163985 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:618161 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:617622 ORPHA:3157 OMIM:615926 OMIM:620141 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:401815 ORPHA:79345 OMIM:302950 OMIM:617020 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 ORPHA:3451 OMIM:300215 OMIM:300419 OMIM:309510 ORPHA:94083 ORPHA:452 ORPHA:3175 ORPHA:333 OMIM:228000 ORPHA:2590 OMIM:616867 ORPHA:99803 OMIM:617796 OMIM:207900 ORPHA:23 OMIM:615574 OMIM:271900 ORPHA:314918 ORPHA:314911 OMIM:608716 OMIM:215700 OMIM:605039 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:3197 OMIM:618011 OMIM:617183 ORPHA:496790 OMIM:618810 OMIM:601238 ORPHA:94122 OMIM:617584 OMIM:619422 ORPHA:250977 OMIM:608688 ORPHA:100984 OMIM:182600 OMIM:208900 OMIM:618494 OMIM:125370 ORPHA:411515 OMIM:619851 OMIM:606693 OMIM:618314 ORPHA:564178 ORPHA:2131 OMIM:104290 OMIM:619605 ORPHA:569 OMIM:614820 OMIM:619606 ORPHA:71517 OMIM:601003 OMIM:124200 OMIM:619910 OMIM:302500 ORPHA:314978 OMIM:618120 OMIM:614053 OMIM:618683 ORPHA:255210 ORPHA:644 OMIM:551500 OMIM:300972 OMIM:300423 ORPHA:93952 OMIM:619971 OMIM:619970 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 OMIM:618012 ORPHA:79499 ORPHA:79500 ORPHA:3473 OMIM:616455 OMIM:309400 ORPHA:565 ORPHA:198 ORPHA:905 OMIM:615268 ORPHA:1766 OMIM:604273 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:94147 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 OMIM:304800 OMIM:615181 ORPHA:899 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:101006 OMIM:609195 OMIM:607091 ORPHA:75496 OMIM:130070 OMIM:615287 OMIM:617120 OMIM:619762 ORPHA:904 OMIM:615995 OMIM:615981 OMIM:615982 OMIM:615984 OMIM:615986 OMIM:300475 OMIM:619641 OMIM:248600 OMIM:614923 OMIM:617101 OMIM:617237 OMIM:618092 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:301029 ORPHA:261330 ORPHA:123 OMIM:262000 OMIM:124000 ORPHA:893 ORPHA:363454 OMIM:615290 OMIM:618291 OMIM:619325 ORPHA:169189 ORPHA:169186 OMIM:255200 OMIM:210900 OMIM:617822 OMIM:614856 ORPHA:261295 ORPHA:139471 OMIM:607932 OMIM:608022 ORPHA:440437 ORPHA:79076 OMIM:616849 OMIM:614299 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 ORPHA:54595 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 OMIM:618056 OMIM:614498 ORPHA:84 OMIM:617883 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:609054 OMIM:617333 OMIM:300659 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:602522 ORPHA:89938 ORPHA:79241 OMIM:253260 OMIM:300755 ORPHA:1052 OMIM:257300 OMIM:618221 OMIM:218340 ORPHA:1777 OMIM:619985 OMIM:614298 ORPHA:434179 OMIM:615948 OMIM:619423 ORPHA:117 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100069 ORPHA:2785 OMIM:259730 OMIM:615751 OMIM:613227 ORPHA:98784 OMIM:617106 ORPHA:97 ORPHA:2382 OMIM:141500 OMIM:618497 OMIM:620029 OMIM:601005 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:618087 ORPHA:458803 ORPHA:64280 OMIM:618501 OMIM:614256 OMIM:616457 OMIM:619519 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:314647 OMIM:251450 ORPHA:1425 OMIM:619318 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 ORPHA:394 OMIM:236200 OMIM:608443 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:244 OMIM:616828 OMIM:619795 OMIM:616816 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:618268 OMIM:614807 OMIM:617507 OMIM:236600 OMIM:615938 OMIM:618147 ORPHA:853 OMIM:308230 ORPHA:1308 OMIM:211750 OMIM:619302 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:2268 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:612580 OMIM:619957 OMIM:618929 ORPHA:231169 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:616342 OMIM:604804 OMIM:616080 OMIM:618748 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:614732 ORPHA:397590 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:95496 ORPHA:220386 ORPHA:280195 OMIM:619561 OMIM:616051 OMIM:608393 OMIM:618702 OMIM:619988 OMIM:616781 OMIM:617761 OMIM:614673 OMIM:613823 OMIM:614845 ORPHA:3156 OMIM:615703 OMIM:615991 OMIM:610188 OMIM:614464 OMIM:614114 OMIM:614728 OMIM:615862 OMIM:618873 ORPHA:572013 OMIM:616230 OMIM:616351 OMIM:617406 OMIM:236690 OMIM:610687 OMIM:616579 ORPHA:529965 OMIM:617682 OMIM:615369 OMIM:618205 OMIM:617159 OMIM:619873 OMIM:214800 ORPHA:138 OMIM:615032 OMIM:620023 OMIM:602541 OMIM:614961 OMIM:600795 ORPHA:233 OMIM:618438 OMIM:608930 OMIM:600513 ORPHA:199318 OMIM:612001 OMIM:616313 OMIM:616321 OMIM:616323 OMIM:608931 OMIM:601776 ORPHA:2953 ORPHA:263463 OMIM:143095 OMIM:605282 ORPHA:363417 OMIM:614869 OMIM:617600 ORPHA:3463 OMIM:617090 OMIM:272440 ORPHA:3255 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:619173 OMIM:618541 OMIM:613090 OMIM:619328 OMIM:300886 ORPHA:324410 OMIM:204200 OMIM:256731 OMIM:600143 OMIM:610003 ORPHA:1947 ORPHA:411493 OMIM:615803 ORPHA:445038 OMIM:616271 OMIM:619835 OMIM:619813 OMIM:617854 ORPHA:453510 ORPHA:2116 OMIM:301008 OMIM:616418 OMIM:618500 OMIM:619033 OMIM:618608 OMIM:618672 OMIM:619071 OMIM:617929 ORPHA:163681 OMIM:610042 OMIM:619058 OMIM:619061 ORPHA:436271 OMIM:615643 ORPHA:263508 OMIM:611209 ORPHA:435934 OMIM:617395 ORPHA:263501 OMIM:613489 OMIM:618150 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:363523 OMIM:615328 OMIM:608779 ORPHA:95428 OMIM:611182 OMIM:616471 ORPHA:536516 OMIM:616470 OMIM:616720 OMIM:267750 ORPHA:287 OMIM:130060 ORPHA:230851 OMIM:617821 ORPHA:91411 OMIM:615155 ORPHA:85198 OMIM:156550 OMIM:151210 ORPHA:94068 ORPHA:90653 ORPHA:2500 OMIM:618343 ORPHA:286 OMIM:175780 OMIM:614483 OMIM:158810 OMIM:254090 OMIM:620022 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:618360 ORPHA:98915 OMIM:619255 OMIM:619884 OMIM:617800 OMIM:607426 ORPHA:255249 OMIM:616276 OMIM:619028 OMIM:616733 ORPHA:139485 OMIM:612016 OMIM:614654 OMIM:615401 ORPHA:550 OMIM:619046 ORPHA:255241 OMIM:619054 OMIM:619060 OMIM:612714 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619059 OMIM:614417 OMIM:619326 OMIM:614615 ORPHA:2754 OMIM:277170 OMIM:617976 ORPHA:352582 ORPHA:280 OMIM:194190 OMIM:237300 OMIM:619876 OMIM:614499 OMIM:617917 OMIM:607417 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615789 OMIM:272430 ORPHA:370980 OMIM:614643 OMIM:618476 OMIM:618870 OMIM:617062 OMIM:618732 OMIM:615636 ORPHA:397715 OMIM:254800 ORPHA:308 OMIM:617915 ORPHA:1775 ORPHA:363611 OMIM:615502 OMIM:604168 ORPHA:48431 ORPHA:212 OMIM:618174 ORPHA:891 OMIM:615075 ORPHA:404473 ORPHA:281 OMIM:219800 ORPHA:351 OMIM:256540 OMIM:610127 ORPHA:763 OMIM:619239 OMIM:300354 ORPHA:85293 OMIM:618330 OMIM:618141 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 ORPHA:621 OMIM:250800 OMIM:618008 OMIM:619132 OMIM:143880 ORPHA:909 OMIM:213700 ORPHA:289157 OMIM:264700 ORPHA:320411 OMIM:615030 OMIM:619073 OMIM:600721 ORPHA:857 ORPHA:280333 ORPHA:370997 OMIM:616538 OMIM:613818 OMIM:618910 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:619441 OMIM:241080 ORPHA:3464 ORPHA:238722 OMIM:617542 OMIM:157600 OMIM:617394 ORPHA:314679 OMIM:601390 OMIM:616459 OMIM:300067 OMIM:619426 ORPHA:910 OMIM:608643 ORPHA:320380 OMIM:615033 OMIM:614507 ORPHA:300536 OMIM:271665 OMIM:613398 OMIM:300958 ORPHA:457260 ORPHA:2919 OMIM:174300 OMIM:618653 OMIM:617171 ORPHA:468620 OMIM:615828 ORPHA:819 OMIM:618404 OMIM:617281 OMIM:604364 ORPHA:98820 OMIM:192430 ORPHA:35107 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:617836 OMIM:613839 OMIM:618480 OMIM:204750 OMIM:618733 OMIM:617804 OMIM:618731 OMIM:618272 OMIM:136630 ORPHA:2849 OMIM:267000 OMIM:305000 ORPHA:79244 OMIM:245348 OMIM:246900 ORPHA:2394 OMIM:300850 OMIM:618793 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:618709 ORPHA:2311 OMIM:183600 ORPHA:98896 OMIM:310200 ORPHA:589821 OMIM:160900 OMIM:618663 OMIM:616113 ORPHA:453533 OMIM:615807 OMIM:127700 OMIM:617384 OMIM:610198 ORPHA:66634 OMIM:617052 ORPHA:811 OMIM:260400 ORPHA:445062 ORPHA:391411 OMIM:615528 OMIM:619858 OMIM:616346 ORPHA:98673 ORPHA:330050 OMIM:614388 OMIM:160150 OMIM:618724 ORPHA:404443 OMIM:615879 OMIM:242860 OMIM:618292 OMIM:614219 ORPHA:411986 OMIM:615859 OMIM:620066 ORPHA:91131 OMIM:617604 OMIM:608093 ORPHA:86309 OMIM:614750 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:263494 OMIM:618992 OMIM:616311 ORPHA:293948 OMIM:274270 ORPHA:1675 OMIM:222748 OMIM:619435 OMIM:615539 ORPHA:573 OMIM:614653 OMIM:270750 OMIM:619847 ORPHA:95716 OMIM:274900 ORPHA:3107 OMIM:180700 ORPHA:239 OMIM:223800 OMIM:614228 OMIM:614563 OMIM:158600 OMIM:618492 OMIM:615633 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:614924 OMIM:617330 OMIM:302960 ORPHA:401973 OMIM:300960 OMIM:616277 OMIM:616460 OMIM:619493 ORPHA:137888 OMIM:277580 OMIM:617561 ORPHA:3447 OMIM:616409 OMIM:616393 ORPHA:90349 OMIM:617941 ORPHA:1520 OMIM:304110 OMIM:610536 ORPHA:79113 OMIM:611718 OMIM:145900 OMIM:605253 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:618878 OMIM:619687 OMIM:618877 OMIM:226980 ORPHA:1667 OMIM:603896 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:268305 OMIM:615440 ORPHA:3019 OMIM:194050 OMIM:618527 OMIM:614457 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 ORPHA:1270 OMIM:620080 OMIM:600348 OMIM:619218 ORPHA:401810 OMIM:615683 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:614257 ORPHA:144 ORPHA:1493 OMIM:242840 OMIM:617951 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:278730 ORPHA:220295 OMIM:610651 ORPHA:90321 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:278780 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 OMIM:617180 OMIM:600775 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 OMIM:615544 OMIM:216100 ORPHA:2319 ORPHA:3103 OMIM:268300 OMIM:602473 ORPHA:51188 OMIM:225500 OMIM:619306 OMIM:618395 OMIM:619072 OMIM:619076 OMIM:619304 OMIM:617763 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 ORPHA:502 OMIM:616682 ORPHA:466926 OMIM:617425 ORPHA:508533 OMIM:113650 ORPHA:2792 OMIM:277590 ORPHA:171629 OMIM:612319 OMIM:602361 OMIM:618763 OMIM:259775 OMIM:300261 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:619338 ORPHA:438178 OMIM:616154 ORPHA:466722 OMIM:614946 OMIM:619013 OMIM:613658 OMIM:618855 OMIM:616006 OMIM:615546 ORPHA:404451 OMIM:616914 ORPHA:284979 ORPHA:2462 OMIM:608328 OMIM:121050 ORPHA:348 OMIM:606220 OMIM:615471 OMIM:618089 OMIM:619777 OMIM:615979 OMIM:618914 OMIM:620012 OMIM:618324 OMIM:618156 OMIM:251900 ORPHA:543470 OMIM:305400 OMIM:609311 ORPHA:2363 OMIM:617166 OMIM:301058 ORPHA:98764 OMIM:610706 ORPHA:2396 OMIM:613001 OMIM:615465 OMIM:147950 OMIM:166250 ORPHA:2645 OMIM:101600 OMIM:190440 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:123500 OMIM:609579 ORPHA:168624 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:101400 OMIM:100800 OMIM:616482 OMIM:610474 ORPHA:429 OMIM:146000 ORPHA:35099 OMIM:602849 ORPHA:53271 ORPHA:85165 ORPHA:1860 OMIM:187600 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:208441 OMIM:611228 ORPHA:3472 OMIM:216340 OMIM:618635 OMIM:614557 ORPHA:300179 ORPHA:370959 ORPHA:370968 ORPHA:34515 OMIM:236670 OMIM:613153 OMIM:606612 ORPHA:272 OMIM:253800 OMIM:613152 OMIM:611588 OMIM:610883 ORPHA:2308 ORPHA:851 OMIM:300321 OMIM:305620 ORPHA:1826 OMIM:300049 OMIM:309350 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 ORPHA:56305 OMIM:150250 ORPHA:503 ORPHA:320406 ORPHA:79452 OMIM:609033 ORPHA:88628 OMIM:225790 OMIM:616193 OMIM:300624 ORPHA:908 ORPHA:449291 ORPHA:261483 OMIM:619705 OMIM:619991 OMIM:613068 ORPHA:95494 ORPHA:95713 ORPHA:1226 OMIM:265380 ORPHA:261144 OMIM:613454 OMIM:274600 ORPHA:705 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:602081 OMIM:304790 ORPHA:2609 OMIM:618241 OMIM:136570 ORPHA:2052 OMIM:219000 OMIM:608980 OMIM:158900 OMIM:616819 ORPHA:466688 OMIM:620094 OMIM:300983 ORPHA:725 OMIM:616981 ORPHA:51208 OMIM:229100 OMIM:612938 OMIM:309549 OMIM:230000 ORPHA:349 OMIM:618005 ORPHA:1136 OMIM:618823 OMIM:618822 OMIM:612541 ORPHA:308552 OMIM:617904 OMIM:617903 ORPHA:33069 OMIM:615744 OMIM:618557 OMIM:618559 OMIM:617153 OMIM:617829 OMIM:617113 OMIM:618396 ORPHA:1945 OMIM:619124 ORPHA:206436 OMIM:245200 ORPHA:206443 OMIM:230350 ORPHA:79237 OMIM:253000 OMIM:618885 ORPHA:79239 OMIM:230400 OMIM:612736 ORPHA:382 ORPHA:643 OMIM:256850 OMIM:619042 OMIM:190685 ORPHA:251071 OMIM:600001 ORPHA:2255 OMIM:615074 ORPHA:363686 OMIM:612718 OMIM:230900 OMIM:231000 ORPHA:2072 ORPHA:352641 OMIM:614409 ORPHA:206583 OMIM:606483 OMIM:231670 ORPHA:25 OMIM:233910 OMIM:602485 ORPHA:33574 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:214400 OMIM:300849 OMIM:617913 OMIM:619333 OMIM:203450 ORPHA:363717 ORPHA:330054 OMIM:613076 OMIM:609060 ORPHA:565624 OMIM:618397 OMIM:610542 OMIM:619518 OMIM:231950 ORPHA:633 ORPHA:317 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:302800 ORPHA:1175 ORPHA:477 ORPHA:320401 OMIM:608804 OMIM:307030 ORPHA:324 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:230650 OMIM:611890 OMIM:615849 OMIM:610829 ORPHA:36 ORPHA:380 OMIM:175700 OMIM:146510 ORPHA:672 OMIM:610199 OMIM:301076 OMIM:614619 ORPHA:401866 OMIM:618412 OMIM:618339 OMIM:606762 ORPHA:35878 OMIM:610015 OMIM:220120 ORPHA:941 ORPHA:309246 OMIM:272750 OMIM:616835 OMIM:615510 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:619854 OMIM:615473 OMIM:617493 ORPHA:624 OMIM:185300 ORPHA:3205 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:612462 ORPHA:79445 OMIM:612463 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 OMIM:269921 ORPHA:3166 OMIM:222765 OMIM:252500 OMIM:252600 ORPHA:576 OMIM:252605 OMIM:252940 OMIM:619603 ORPHA:2078 OMIM:231070 OMIM:618721 OMIM:617810 ORPHA:529665 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:93329 OMIM:615501 OMIM:613470 OMIM:616939 OMIM:604213 OMIM:616281 ORPHA:477673 ORPHA:96182 ORPHA:99772 OMIM:619931 OMIM:619927 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:617864 OMIM:616204 OMIM:611092 OMIM:619580 ORPHA:208447 OMIM:619814 OMIM:614254 OMIM:617820 ORPHA:289266 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:616139 OMIM:613970 OMIM:617162 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:618922 OMIM:266130 OMIM:618646 OMIM:616943 OMIM:616395 OMIM:617988 ORPHA:444013 OMIM:616198 OMIM:204000 OMIM:617065 ORPHA:584 OMIM:253220 ORPHA:2089 OMIM:617537 ORPHA:2128 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:619720 OMIM:619721 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 OMIM:619967 OMIM:616756 ORPHA:464282 OMIM:609975 ORPHA:71212 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:2157 OMIM:614504 OMIM:610738 ORPHA:98791 OMIM:309541 OMIM:615871 OMIM:618482 OMIM:619521 ORPHA:1001 OMIM:600430 OMIM:619797 OMIM:300863 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 OMIM:617268 OMIM:616911 OMIM:604004 OMIM:613925 OMIM:613926 OMIM:261990 OMIM:617011 ORPHA:457359 OMIM:615516 OMIM:176270 ORPHA:226307 OMIM:182230 OMIM:268800 ORPHA:309155 OMIM:252930 ORPHA:1422 OMIM:250620 ORPHA:88639 OMIM:619983 OMIM:616881 ORPHA:324442 OMIM:616977 OMIM:618547 OMIM:253270 ORPHA:94063 OMIM:300915 ORPHA:20 OMIM:246450 ORPHA:324575 ORPHA:261265 ORPHA:93111 ORPHA:263455 OMIM:616739 ORPHA:52430 OMIM:620083 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:238769 OMIM:617391 OMIM:601536 ORPHA:83463 OMIM:614744 OMIM:276710 OMIM:619026 ORPHA:79233 OMIM:300322 ORPHA:510 OMIM:614075 OMIM:218040 ORPHA:3071 ORPHA:2612 ORPHA:2874 OMIM:163200 OMIM:619194 OMIM:301025 ORPHA:85295 ORPHA:391428 ORPHA:391457 OMIM:300438 OMIM:261515 OMIM:233400 ORPHA:90791 OMIM:616854 OMIM:612233 ORPHA:800 OMIM:255800 ORPHA:399 OMIM:617435 OMIM:309590 ORPHA:85163 OMIM:610532 ORPHA:541423 OMIM:617093 ORPHA:436174 OMIM:616007 OMIM:615330 ORPHA:99646 OMIM:613657 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:93473 OMIM:607014 OMIM:614231 OMIM:615846 ORPHA:805 OMIM:613254 OMIM:617781 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:617102 OMIM:617119 OMIM:619582 ORPHA:52055 OMIM:300472 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:616489 ORPHA:464 OMIM:308300 OMIM:300143 OMIM:612852 OMIM:619398 OMIM:618523 OMIM:619751 OMIM:617323 OMIM:213300 OMIM:610156 ORPHA:75858 ORPHA:559 OMIM:617404 OMIM:258480 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:618571 OMIM:618572 OMIM:617926 OMIM:619472 OMIM:618687 OMIM:309530 ORPHA:217377 ORPHA:397933 OMIM:618451 OMIM:618088 ORPHA:3452 ORPHA:1300 ORPHA:199302 OMIM:611174 OMIM:617613 OMIM:616370 OMIM:613385 ORPHA:228426 OMIM:613204 OMIM:616647 ORPHA:1065 OMIM:206700 OMIM:117360 ORPHA:208513 OMIM:243500 ORPHA:33 OMIM:274800 OMIM:118450 OMIM:619574 OMIM:619566 OMIM:613730 OMIM:612900 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:613641 OMIM:619196 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:618974 OMIM:616212 ORPHA:89844 OMIM:616784 ORPHA:37612 OMIM:616366 OMIM:618284 OMIM:616056 OMIM:619913 OMIM:605259 ORPHA:98768 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:276580 ORPHA:79644 OMIM:618856 OMIM:170390 ORPHA:37553 OMIM:614098 ORPHA:435628 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:617643 OMIM:618596 ORPHA:79137 OMIM:618729 OMIM:609446 OMIM:619725 OMIM:618658 OMIM:613720 ORPHA:439218 OMIM:121200 OMIM:617601 OMIM:615005 OMIM:614959 OMIM:617771 OMIM:611726 ORPHA:263516 OMIM:619131 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:147920 OMIM:300867 OMIM:618505 OMIM:616490 OMIM:619476 OMIM:619479 OMIM:617296 ORPHA:521390 OMIM:152950 ORPHA:2526 OMIM:617914 ORPHA:261323 OMIM:614255 OMIM:614213 ORPHA:2836 ORPHA:397946 OMIM:615411 OMIM:300923 ORPHA:100991 OMIM:617235 OMIM:615282 OMIM:200990 OMIM:607131 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:2884 OMIM:609541 OMIM:300982 OMIM:615731 ORPHA:319182 OMIM:605130 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:617768 OMIM:618512 OMIM:617788 OMIM:604321 ORPHA:221139 OMIM:613328 ORPHA:397612 OMIM:615637 OMIM:615278 OMIM:609942 OMIM:600268 ORPHA:79396 OMIM:619599 ORPHA:496689 OMIM:617114 ORPHA:79155 OMIM:617661 OMIM:304100 OMIM:307000 ORPHA:2182 OMIM:303350 ORPHA:2466 ORPHA:1497 ORPHA:306617 OMIM:236792 ORPHA:79314 ORPHA:2065 OMIM:301006 ORPHA:370022 OMIM:615960 ORPHA:258 OMIM:607855 OMIM:618138 ORPHA:352682 OMIM:615191 OMIM:609049 OMIM:614115 OMIM:300257 ORPHA:34587 OMIM:613154 OMIM:608840 ORPHA:319671 OMIM:615071 OMIM:615438 OMIM:615300 OMIM:309585 OMIM:169400 OMIM:618019 ORPHA:364055 OMIM:245450 ORPHA:166119 OMIM:620089 OMIM:620007 OMIM:221750 OMIM:614462 OMIM:619774 ORPHA:298 ORPHA:235 OMIM:606593 ORPHA:99812 OMIM:618103 OMIM:614340 ORPHA:75233 OMIM:616299 OMIM:617668 OMIM:617863 OMIM:616887 ORPHA:2378 ORPHA:79284 OMIM:277380 OMIM:619694 ORPHA:157973 OMIM:212112 OMIM:613205 OMIM:619179 ORPHA:79087 OMIM:616540 OMIM:619180 ORPHA:495818 OMIM:618090 ORPHA:1458 OMIM:600373 ORPHA:79243 ORPHA:2143 OMIM:222448 OMIM:212780 ORPHA:2788 OMIM:259770 ORPHA:178377 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:615198 OMIM:619486 OMIM:618840 OMIM:619451 OMIM:614037 OMIM:615595 OMIM:615838 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:615994 OMIM:616564 OMIM:605275 OMIM:615877 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:459056 OMIM:616680 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:301031 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:619775 ORPHA:118 OMIM:248510 OMIM:300615 OMIM:618918 OMIM:615279 OMIM:615280 ORPHA:638 OMIM:617760 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 OMIM:616734 ORPHA:240085 ORPHA:401835 OMIM:615486 OMIM:619692 ORPHA:314603 OMIM:616430 OMIM:257920 OMIM:618273 OMIM:250850 ORPHA:228402 OMIM:156200 OMIM:617188 ORPHA:85284 ORPHA:2273 OMIM:308205 ORPHA:361 OMIM:210200 OMIM:210210 OMIM:251120 OMIM:618124 OMIM:609981 OMIM:252650 ORPHA:578 OMIM:251200 ORPHA:1596 OMIM:618959 OMIM:617339 OMIM:616738 OMIM:300496 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:1762 OMIM:312750 ORPHA:778 ORPHA:3077 OMIM:617282 ORPHA:508093 ORPHA:293707 ORPHA:93932 OMIM:309520 ORPHA:776 OMIM:300895 OMIM:305450 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616789 OMIM:613668 OMIM:614249 OMIM:616449 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 OMIM:614399 ORPHA:65759 OMIM:614976 ORPHA:261190 OMIM:600987 OMIM:618644 OMIM:615942 OMIM:618665 OMIM:617086 ORPHA:485421 OMIM:617087 OMIM:616486 OMIM:610951 OMIM:212066 ORPHA:79329 OMIM:615084 ORPHA:352447 OMIM:245150 ORPHA:85202 OMIM:619269 ORPHA:67047 OMIM:618329 OMIM:615673 ORPHA:401768 ORPHA:2745 OMIM:300000 OMIM:300928 ORPHA:284339 OMIM:619527 OMIM:617228 ORPHA:391646 OMIM:605231 ORPHA:2473 OMIM:615990 OMIM:617121 OMIM:249000 OMIM:620138 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 ORPHA:79283 OMIM:277410 OMIM:250400 ORPHA:371428 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:618774 OMIM:176450 OMIM:252150 OMIM:252160 OMIM:606056 ORPHA:466768 OMIM:616688 OMIM:619090 OMIM:614741 OMIM:609180 ORPHA:79323 OMIM:615219 OMIM:234050 OMIM:256810 ORPHA:101082 OMIM:618184 OMIM:180800 OMIM:618499 ORPHA:251347 OMIM:618567 OMIM:618951 OMIM:614582 OMIM:618378 OMIM:617950 OMIM:611719 OMIM:619025 OMIM:617664 OMIM:301032 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:614947 OMIM:618248 OMIM:617780 OMIM:236250 ORPHA:395 OMIM:618367 OMIM:310400 OMIM:601382 OMIM:614702 OMIM:607341 ORPHA:457485 OMIM:616638 ORPHA:254343 OMIM:613672 OMIM:250940 ORPHA:320375 ORPHA:254930 OMIM:613559 OMIM:615035 OMIM:236270 ORPHA:2169 OMIM:620086 ORPHA:343 OMIM:610377 ORPHA:29 OMIM:164280 ORPHA:391641 OMIM:193700 ORPHA:324604 ORPHA:437572 OMIM:618414 OMIM:254940 ORPHA:1358 OMIM:616549 OMIM:619482 ORPHA:79476 OMIM:214450 ORPHA:33445 ORPHA:2290 OMIM:276900 OMIM:618198 OMIM:618975 ORPHA:171881 OMIM:618280 OMIM:618113 OMIM:618116 ORPHA:508542 OMIM:616521 OMIM:300855 ORPHA:276432 OMIM:617787 OMIM:619717 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:79279 ORPHA:79280 ORPHA:79281 OMIM:609242 OMIM:609241 OMIM:252920 ORPHA:927 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:610442 OMIM:620033 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:614063 OMIM:618321 OMIM:617186 OMIM:619157 OMIM:251260 OMIM:617983 OMIM:618460 OMIM:617985 OMIM:619373 ORPHA:2177 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:310600 ORPHA:99950 OMIM:616116 OMIM:301020 OMIM:618243 OMIM:618236 OMIM:618244 OMIM:618249 OMIM:618235 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618234 OMIM:618233 ORPHA:70474 OMIM:618240 OMIM:618238 OMIM:618239 OMIM:618246 OMIM:619170 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618224 OMIM:618222 OMIM:618225 OMIM:618229 OMIM:256030 OMIM:615833 ORPHA:3253 OMIM:617201 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 OMIM:617882 ORPHA:2751 OMIM:263520 OMIM:619099 OMIM:618853 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:618374 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:139474 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:618356 OMIM:617744 ORPHA:401986 OMIM:613735 ORPHA:447980 ORPHA:420179 ORPHA:561 OMIM:602535 OMIM:614753 ORPHA:293978 OMIM:615577 OMIM:605711 ORPHA:64752 OMIM:608654 ORPHA:404454 OMIM:615273 OMIM:618278 OMIM:224230 OMIM:613987 ORPHA:627 OMIM:302350 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:122470 OMIM:301039 ORPHA:209905 OMIM:118700 OMIM:610978 OMIM:225250 ORPHA:95712 OMIM:613330 ORPHA:527497 OMIM:617560 OMIM:618830 OMIM:300425 OMIM:300495 ORPHA:1451 OMIM:619260 ORPHA:466791 OMIM:300967 ORPHA:136 OMIM:130720 ORPHA:2789 OMIM:618859 OMIM:257220 OMIM:607625 OMIM:609583 ORPHA:220497 OMIM:266900 OMIM:615722 ORPHA:401777 OMIM:619911 OMIM:249400 OMIM:613224 OMIM:619833 OMIM:618875 OMIM:614325 ORPHA:228415 OMIM:117550 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:308050 OMIM:619340 OMIM:617241 OMIM:620001 OMIM:611091 OMIM:619012 ORPHA:320396 OMIM:613162 OMIM:618718 ORPHA:642 OMIM:256800 OMIM:617830 OMIM:613886 OMIM:618242 OMIM:619844 OMIM:618348 OMIM:616730 OMIM:618349 OMIM:618426 OMIM:271930 OMIM:617082 OMIM:617831 ORPHA:1507 OMIM:618529 ORPHA:98794 OMIM:251290 OMIM:300555 OMIM:309000 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:203740 ORPHA:31 OMIM:619701 OMIM:300997 OMIM:210000 OMIM:616896 ORPHA:67036 OMIM:300486 ORPHA:137831 OMIM:224690 OMIM:613803 OMIM:617729 ORPHA:85179 OMIM:311250 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:610125 OMIM:610915 ORPHA:2050 OMIM:618493 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:217385 OMIM:607432 ORPHA:95232 ORPHA:79254 ORPHA:2209 OMIM:618158 OMIM:618458 OMIM:300558 OMIM:613320 ORPHA:216866 OMIM:234200 OMIM:619489 OMIM:616353 OMIM:618437 OMIM:615560 OMIM:120330 ORPHA:97362 ORPHA:896 OMIM:148820 ORPHA:137902 OMIM:194072 OMIM:618578 ORPHA:95720 OMIM:617641 OMIM:266150 OMIM:264070 ORPHA:1578 OMIM:606054 ORPHA:35 OMIM:251280 OMIM:602083 OMIM:300088 ORPHA:101039 OMIM:619880 OMIM:618371 OMIM:261680 OMIM:608027 OMIM:615919 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:618770 OMIM:620047 OMIM:616921 ORPHA:494526 OMIM:616922 OMIM:619150 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:615665 OMIM:213600 OMIM:312170 ORPHA:255138 OMIM:614111 OMIM:245349 ORPHA:255182 ORPHA:352675 OMIM:608782 ORPHA:79246 OMIM:614651 OMIM:620021 ORPHA:742 OMIM:170100 OMIM:619063 ORPHA:3220 ORPHA:772 ORPHA:44 OMIM:214100 OMIM:601539 ORPHA:912 ORPHA:247815 OMIM:614870 OMIM:614871 OMIM:614920 OMIM:266510 OMIM:614883 OMIM:614876 OMIM:614877 OMIM:614886 OMIM:614866 OMIM:614867 OMIM:614873 OMIM:614882 OMIM:617370 OMIM:214110 OMIM:202370 OMIM:616716 OMIM:614863 OMIM:614879 ORPHA:773 OMIM:215100 ORPHA:401820 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:615716 ORPHA:713 OMIM:300653 OMIM:614921 OMIM:615816 ORPHA:443811 OMIM:618298 ORPHA:89936 OMIM:618725 ORPHA:127 OMIM:301900 OMIM:300263 ORPHA:85287 ORPHA:79351 OMIM:601815 OMIM:617991 ORPHA:589905 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:613027 OMIM:619708 OMIM:617767 OMIM:619827 OMIM:616843 OMIM:114300 OMIM:617146 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:301072 OMIM:618580 OMIM:617816 OMIM:619356 ORPHA:488635 OMIM:616917 OMIM:618010 OMIM:618879 ORPHA:3474 OMIM:280000 OMIM:610293 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:617599 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616025 OMIM:616809 ORPHA:557003 OMIM:618440 OMIM:615108 ORPHA:60040 OMIM:602501 OMIM:616005 OMIM:269880 OMIM:603387 OMIM:618889 OMIM:619405 OMIM:610623 ORPHA:199351 ORPHA:35069 OMIM:256600 OMIM:610217 OMIM:617527 ORPHA:521426 OMIM:613722 OMIM:618961 OMIM:619895 OMIM:613723 ORPHA:254361 OMIM:616763 ORPHA:2518 OMIM:616171 OMIM:225400 ORPHA:1900 OMIM:612394 ORPHA:280234 OMIM:312080 ORPHA:280229 ORPHA:280219 ORPHA:280210 ORPHA:280224 OMIM:312920 ORPHA:99015 OMIM:617290 OMIM:619955 ORPHA:570 OMIM:212065 ORPHA:79318 ORPHA:90658 ORPHA:1170 OMIM:213200 OMIM:617954 ORPHA:459033 OMIM:613402 OMIM:613179 ORPHA:760 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:215470 OMIM:245800 ORPHA:2377 OMIM:275400 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:614813 OMIM:616364 ORPHA:468678 OMIM:301220 OMIM:301030 ORPHA:163976 ORPHA:726 OMIM:603041 OMIM:203700 OMIM:613662 OMIM:610131 ORPHA:861 OMIM:616494 OMIM:613717 OMIM:618603 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:619742 OMIM:614381 OMIM:619234 OMIM:619310 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:613157 OMIM:614830 OMIM:618135 OMIM:615249 OMIM:616094 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:613158 ORPHA:206559 ORPHA:95699 OMIM:305600 OMIM:613038 OMIM:618604 ORPHA:1435 OMIM:619352 OMIM:620024 OMIM:619301 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:616355 OMIM:618265 OMIM:617711 OMIM:256730 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 OMIM:616488 OMIM:619909 OMIM:619761 OMIM:616224 OMIM:603553 OMIM:620005 OMIM:101800 OMIM:619680 ORPHA:412066 OMIM:617364 ORPHA:210571 OMIM:612067 OMIM:617157 ORPHA:464288 ORPHA:280397 ORPHA:157941 OMIM:612304 OMIM:239500 OMIM:619737 OMIM:301835 OMIM:311070 ORPHA:1187 OMIM:300661 ORPHA:411543 ORPHA:423479 OMIM:619539 ORPHA:98811 OMIM:249500 OMIM:617481 ORPHA:544469 OMIM:614895 OMIM:610539 OMIM:249900 OMIM:610992 ORPHA:284417 OMIM:620038 OMIM:256040 OMIM:620071 OMIM:619354 OMIM:617516 OMIM:619183 ORPHA:79350 OMIM:614023 OMIM:619057 OMIM:109400 ORPHA:377 OMIM:610828 ORPHA:77301 OMIM:300830 OMIM:151050 ORPHA:2658 ORPHA:109 OMIM:158350 OMIM:605309 ORPHA:2969 OMIM:600002 OMIM:151100 OMIM:618890 OMIM:613391 ORPHA:456312 OMIM:616263 ORPHA:13 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:617931 OMIM:616158 ORPHA:438216 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:612940 OMIM:614438 OMIM:616420 ORPHA:481152 ORPHA:369 OMIM:615760 ORPHA:226 OMIM:261630 OMIM:617982 OMIM:617807 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:2379 OMIM:300271 OMIM:311510 ORPHA:1387 OMIM:619420 OMIM:600118 ORPHA:401830 OMIM:212720 OMIM:614225 OMIM:616994 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:614701 OMIM:613078 OMIM:617244 OMIM:611553 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 ORPHA:88619 ORPHA:2470 OMIM:615524 OMIM:616140 ORPHA:438114 OMIM:611523 ORPHA:1587 OMIM:251255 OMIM:606744 OMIM:619690 ORPHA:2886 OMIM:311900 OMIM:612079 ORPHA:157954 OMIM:274000 OMIM:300238 OMIM:614814 OMIM:617175 OMIM:616108 ORPHA:436245 OMIM:218600 OMIM:268400 OMIM:620011 OMIM:257320 OMIM:617916 OMIM:616975 ORPHA:494344 OMIM:162300 ORPHA:504476 OMIM:612015 ORPHA:244310 OMIM:618004 OMIM:618761 OMIM:618970 ORPHA:1234 OMIM:615355 OMIM:300978 OMIM:614922 OMIM:607095 OMIM:610333 OMIM:610329 OMIM:612951 OMIM:300953 OMIM:616260 OMIM:618379 ORPHA:544503 ORPHA:137634 OMIM:611943 ORPHA:420741 OMIM:619686 OMIM:619460 OMIM:619688 ORPHA:512260 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:619487 OMIM:607313 ORPHA:1946 OMIM:226750 OMIM:268310 OMIM:618060 OMIM:618357 OMIM:204100 OMIM:619113 OMIM:611560 OMIM:608611 OMIM:300998 ORPHA:459070 OMIM:612528 OMIM:105650 OMIM:617412 OMIM:606164 OMIM:303600 ORPHA:192 OMIM:300844 OMIM:618624 OMIM:612075 OMIM:268315 OMIM:619453 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:615190 OMIM:616732 ORPHA:468631 OMIM:614833 ORPHA:404499 OMIM:615705 OMIM:617773 ORPHA:324581 ORPHA:597 OMIM:117000 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:178145 OMIM:270550 OMIM:107480 OMIM:601068 OMIM:617053 OMIM:612952 OMIM:246700 ORPHA:3129 OMIM:617709 OMIM:616402 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 ORPHA:99956 OMIM:607330 ORPHA:46059 OMIM:618195 OMIM:615548 OMIM:619317 OMIM:607208 OMIM:617350 OMIM:613721 OMIM:618924 OMIM:617935 OMIM:617938 OMIM:614198 ORPHA:99735 OMIM:614306 OMIM:614558 OMIM:620107 ORPHA:521411 OMIM:604377 OMIM:619184 ORPHA:466794 OMIM:616719 OMIM:618766 OMIM:615993 OMIM:613615 ORPHA:3208 OMIM:252011 OMIM:619166 OMIM:619224 OMIM:619167 ORPHA:50814 ORPHA:171706 ORPHA:506353 OMIM:618768 OMIM:602771 OMIM:618876 ORPHA:2524 OMIM:613811 OMIM:614739 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:618832 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:610913 OMIM:615578 ORPHA:119 OMIM:126550 OMIM:617575 OMIM:252900 ORPHA:261222 ORPHA:261197 ORPHA:329249 OMIM:249420 OMIM:601596 ORPHA:48652 OMIM:606232 OMIM:613950 OMIM:142945 OMIM:147250 OMIM:619121 OMIM:607721 OMIM:619922 ORPHA:85288 OMIM:619314 OMIM:616341 ORPHA:1935 OMIM:618162 OMIM:248800 ORPHA:171829 ORPHA:369873 ORPHA:398079 ORPHA:94065 ORPHA:500166 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:182212 ORPHA:84064 OMIM:222470 OMIM:618363 OMIM:601678 OMIM:619081 OMIM:619083 OMIM:619080 OMIM:616645 OMIM:620068 OMIM:218000 ORPHA:1496 OMIM:615905 OMIM:616095 ORPHA:59 OMIM:300523 OMIM:269920 OMIM:604369 ORPHA:352649 OMIM:618049 OMIM:249270 ORPHA:263410 OMIM:607483 OMIM:222730 OMIM:617105 OMIM:612656 OMIM:616657 ORPHA:447997 OMIM:212140 OMIM:615182 OMIM:618197 OMIM:612949 ORPHA:247585 OMIM:238970 ORPHA:415 ORPHA:99742 ORPHA:159 ORPHA:2095 OMIM:616794 OMIM:615418 OMIM:618416 OMIM:616505 OMIM:619303 ORPHA:1782 ORPHA:168569 ORPHA:71277 OMIM:614847 OMIM:606777 OMIM:612126 ORPHA:168577 ORPHA:53583 OMIM:608885 OMIM:208050 ORPHA:3342 OMIM:227810 OMIM:617595 OMIM:614482 OMIM:603585 OMIM:300896 ORPHA:356961 OMIM:615553 ORPHA:370943 OMIM:266265 ORPHA:99843 OMIM:242600 OMIM:619525 ORPHA:79259 OMIM:619881 OMIM:612350 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:618868 OMIM:617532 OMIM:229050 ORPHA:90045 OMIM:604278 OMIM:274400 OMIM:618973 OMIM:617143 OMIM:616421 OMIM:616269 ORPHA:457212 OMIM:234500 ORPHA:238455 OMIM:613135 OMIM:614618 OMIM:300352 ORPHA:52503 OMIM:617301 ORPHA:470 OMIM:616291 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:221200 OMIM:619657 ORPHA:2588 OMIM:139210 OMIM:617439 OMIM:619293 ORPHA:2728 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:618362 OMIM:618779 OMIM:617475 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:601707 ORPHA:1553 OMIM:241800 OMIM:206920 ORPHA:1106 ORPHA:77293 OMIM:257200 OMIM:618622 OMIM:309583 ORPHA:3063 OMIM:616330 ORPHA:66631 OMIM:609528 OMIM:614501 ORPHA:542310 OMIM:614561 OMIM:117650 ORPHA:1393 OMIM:105830 OMIM:209850 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 OMIM:618598 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 ORPHA:1513 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:615866 OMIM:137940 ORPHA:77298 OMIM:300123 ORPHA:67045 OMIM:618506 ORPHA:313892 OMIM:616803 OMIM:618971 OMIM:114290 OMIM:613849 OMIM:616507 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:145420 OMIM:615959 OMIM:619312 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:248900 ORPHA:99013 OMIM:256500 ORPHA:634 OMIM:618828 OMIM:618829 ORPHA:70594 OMIM:612716 OMIM:611431 ORPHA:137605 OMIM:619745 OMIM:613477 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:617519 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:612379 OMIM:612713 ORPHA:324737 OMIM:618752 OMIM:300643 ORPHA:1772 OMIM:300934 ORPHA:370927 OMIM:615006 OMIM:611090 OMIM:609056 OMIM:255995 ORPHA:168572 OMIM:617635 ORPHA:502434 OMIM:301043 OMIM:301022 ORPHA:521258 OMIM:614261 OMIM:607876 OMIM:618886 OMIM:301013 OMIM:612703 OMIM:185070 OMIM:601186 OMIM:611087 ORPHA:500533 OMIM:308100 ORPHA:281090 OMIM:615596 OMIM:619714 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:412057 OMIM:603552 OMIM:616172 OMIM:619446 OMIM:612164 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 OMIM:617757 ORPHA:35706 ORPHA:585 OMIM:272200 OMIM:272300 OMIM:619480 OMIM:220110 OMIM:618786 OMIM:618569 OMIM:300491 OMIM:300115 ORPHA:85294 OMIM:618484 ORPHA:88644 ORPHA:319332 OMIM:612621 ORPHA:544254 OMIM:617389 OMIM:300802 OMIM:618218 ORPHA:522077 ORPHA:284271 OMIM:614229 OMIM:616040 OMIM:615476 ORPHA:228410 OMIM:614839 OMIM:619052 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:617126 OMIM:619972 OMIM:302060 ORPHA:101028 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:615918 OMIM:618950 OMIM:276600 ORPHA:28378 OMIM:615663 OMIM:617695 OMIM:220500 OMIM:615338 OMIM:605021 ORPHA:352596 ORPHA:397973 OMIM:619323 OMIM:248000 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:241410 ORPHA:2323 OMIM:616900 ORPHA:488632 OMIM:616944 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:606053 ORPHA:1727 OMIM:188400 OMIM:618223 ORPHA:261279 OMIM:615314 OMIM:619718 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:275350 OMIM:154500 OMIM:616654 OMIM:614815 ORPHA:2753 ORPHA:404493 OMIM:616949 ORPHA:320385 OMIM:615031 OMIM:614020 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:617952 OMIM:127550 OMIM:613989 OMIM:619126 OMIM:618798 OMIM:113620 OMIM:169100 ORPHA:46627 OMIM:301066 OMIM:615658 OMIM:274700 OMIM:616145 OMIM:618213 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:276193 ORPHA:101150 OMIM:605407 OMIM:618800 OMIM:300957 ORPHA:457240 OMIM:613680 ORPHA:363444 OMIM:188570 OMIM:619989 OMIM:619908 ORPHA:505216 OMIM:617698 OMIM:304700 OMIM:618251 OMIM:613990 OMIM:268130 OMIM:609560 ORPHA:254875 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:613002 OMIM:615432 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617562 OMIM:617563 OMIM:620075 OMIM:614727 ORPHA:100974 OMIM:616829 OMIM:608091 OMIM:619562 OMIM:619470 OMIM:614970 ORPHA:2752 OMIM:614424 OMIM:607454 ORPHA:98773 OMIM:615066 OMIM:619727 OMIM:618688 OMIM:619966 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:300872 ORPHA:209981 OMIM:617255 OMIM:618730 OMIM:612301 OMIM:239000 OMIM:617028 ORPHA:98902 OMIM:605355 OMIM:619556 OMIM:608423 OMIM:619653 OMIM:619243 OMIM:614969 OMIM:619185 ORPHA:93357 OMIM:271510 OMIM:618097 OMIM:618947 OMIM:128100 OMIM:618165 OMIM:617730 OMIM:604292 ORPHA:1896 OMIM:615512 OMIM:614458 OMIM:609285 OMIM:609284 OMIM:204500 ORPHA:444463 OMIM:619220 OMIM:617731 OMIM:613307 OMIM:616629 OMIM:618164 OMIM:616777 OMIM:618201 OMIM:620027 ORPHA:369847 OMIM:615356 ORPHA:369840 ORPHA:500144 OMIM:617669 OMIM:618351 OMIM:618331 OMIM:618741 OMIM:617862 ORPHA:352530 OMIM:613192 ORPHA:2770 OMIM:225750 OMIM:275120 ORPHA:99832 OMIM:615490 OMIM:253250 OMIM:618667 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:184260 OMIM:617752 OMIM:617598 ORPHA:486815 OMIM:617066 OMIM:616866 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616539 ORPHA:254864 ORPHA:2596 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:616084 OMIM:181405 OMIM:618188 OMIM:618454 OMIM:191100 OMIM:617026 OMIM:277470 OMIM:225753 OMIM:610505 OMIM:275100 ORPHA:90674 ORPHA:99819 ORPHA:424 OMIM:609152 OMIM:300210 OMIM:615157 OMIM:619534 OMIM:619244 OMIM:615985 OMIM:615541 ORPHA:391307 OMIM:611705 ORPHA:96 OMIM:611603 ORPHA:171680 ORPHA:467166 ORPHA:250972 OMIM:615771 OMIM:156610 OMIM:615763 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:612438 OMIM:615412 OMIM:616335 OMIM:251270 OMIM:610678 OMIM:611093 OMIM:617746 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:271245 OMIM:609286 ORPHA:478029 OMIM:616811 OMIM:619959 OMIM:617132 OMIM:300860 ORPHA:163956 ORPHA:238446 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:2707 OMIM:619639 OMIM:243800 ORPHA:2315 OMIM:619189 ORPHA:500180 OMIM:617672 ORPHA:276556 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618792 OMIM:618744 ORPHA:79234 ORPHA:30 OMIM:258900 OMIM:619377 OMIM:616801 OMIM:613161 OMIM:300676 OMIM:615824 OMIM:616111 OMIM:615160 OMIM:618775 OMIM:615159 OMIM:276880 OMIM:300984 ORPHA:500055 OMIM:616863 ORPHA:401795 OMIM:300968 OMIM:300919 ORPHA:480880 OMIM:617054 OMIM:618323 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:614402 OMIM:277440 OMIM:613404 OMIM:224050 OMIM:310440 OMIM:616683 ORPHA:466934 OMIM:216550 ORPHA:193 ORPHA:95434 OMIM:607317 OMIM:619291 ORPHA:505248 OMIM:617303 OMIM:620009 OMIM:208085 OMIM:619135 ORPHA:319199 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:607596 OMIM:616948 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 ORPHA:906 OMIM:618707 OMIM:615817 OMIM:220210 OMIM:619227 OMIM:617520 OMIM:150550 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:618652 OMIM:618347 OMIM:618346 ORPHA:329284 OMIM:300894 OMIM:617977 ORPHA:401800 OMIM:604317 ORPHA:83472 OMIM:251300 OMIM:610185 OMIM:222300 OMIM:618453 OMIM:619648 OMIM:615220 ORPHA:284282 OMIM:616211 OMIM:614322 OMIM:278700 OMIM:613159 OMIM:616541 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:120433 ORPHA:1473 OMIM:619418 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:617665 OMIM:617557 ORPHA:506358 OMIM:602531 ORPHA:79094 OMIM:618383 ORPHA:36367 OMIM:612337 ORPHA:3042 OMIM:259050 OMIM:614069 OMIM:619769 OMIM:617125 ORPHA:3454 OMIM:314580 OMIM:301041 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:616602 OMIM:618736 OMIM:609637 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:618425 OMIM:617260 OMIM:619188 OMIM:615095 OMIM:619557 OMIM:618619 OMIM:619877 OMIM:619488 OMIM:300803 OMIM:619644 OMIM:260565 OMIM:619321 OMIM:603671 ORPHA:1827 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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