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
..Abnormality of higher mental function (HP:0011446)

Term ID:

11446

Name:

Abnormality of higher mental function

Synonym:

Definition:

Cognitive, psychiatric or memory anomaly.

Comments:

Reference:

HP:0011446

Genes and Diseases:

Child Nodes:

........

Neurological speech impairment (HP:0002167)

................... HP:0001260 Dysarthria
................... HP:0001344 Absent speech
................... HP:0001618 Dysphonia
................... HP:0002168 Scanning speech
................... HP:0002300 Mutism
................... HP:0002357 Dysphasia
................... HP:0002371 Loss of speech
................... HP:0002381 Aphasia
................... HP:0002425 Anarthria
................... HP:0002465 Poor speech
................... HP:0002526 Deficit in nonword repetition
................... HP:0002546 Incomprehensible speech
................... HP:0006977 Grammar-specific speech disorder
................... HP:0010523 Alexia
................... HP:0010526 Dysgraphia
................... HP:0010529 Echolalia
................... HP:0025268 Stuttering
................... HP:0030784 Anomia
................... HP:0031814 Palilalia

........

Apraxia (HP:0002186)

................... HP:0000657 Oculomotor apraxia
................... HP:0000658 Eyelid apraxia
................... HP:0007301 Oromotor apraxia
................... HP:0010521 Gait apraxia
................... HP:0011098 Speech apraxia
................... HP:0030217 Limb apraxia

........

Language impairment (HP:0002463)

................... HP:0030391 Spoken Word Recognition Deficit

........

Reduced consciousness/confusion (HP:0004372)

................... HP:0001254 Lethargy
................... HP:0001259 Coma
................... HP:0001262 Excessive daytime somnolence
................... HP:0001289 Confusion
................... HP:0002189 Excessive daytime sleepiness
................... HP:0002329 Drowsiness
................... HP:0007159 Fluctuations in consciousness
................... HP:0007185 Loss of consciousness
................... HP:0007200 Episodic hypersomnia
................... HP:0031358 Vegetative state

........

Agnosia (HP:0010524)

................... HP:0010525 Finger agnosia
................... HP:0010527 Astereognosia
................... HP:0010528 Prosopagnosia
................... HP:0030222 Visual agnosia

........

Optic ataxia (HP:0031868)

........

Micrographia (HP:0031908)

........

Cognitive impairment (HP:0100543)

................... HP:0001268 Mental deterioration
................... HP:0002354 Memory impairment
................... HP:0031843 Bradyphrenia

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 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)

Neurodevelopmental abnormality (HP:0012759)

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:0011446	HP:0011446	Abnormality of higher mental function	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent		91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			530
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease			192
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome			168
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCKDK CL E G H	10295	16902	OMIM:614923	Branched-Chain ketoacid dehydrogenase kinase deficiency			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome			227
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4			188
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1			225
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27			702
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type			702
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040284 - Very rare
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant			155
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome			79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:609579	Familial scaphocephaly syndrome, Mcgillivray type			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLI1 CL E G H	2313	3749	ORPHA:851	Paris-Trousseau thrombocytopenia			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome			233
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0011446	HP:0011446	Abnormality of higher mental function	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6			32
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HCRT CL E G H	3060	4847	ORPHA:83465	Narcolepsy type 2			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:83465	Narcolepsy type 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:83465	Narcolepsy type 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSD17B10 CL E G H	3028	4800	ORPHA:85295	HSD10 disease, atypical type			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0011446	HP:0011446	Abnormality of higher mental function	0	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4			130
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7			528
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5			321
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAOA CL E G H	4128	6833	ORPHA:3057	Monoamine oxidase A deficiency			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1			155
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			112
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA			183
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III			163
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1			231
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9			225
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome			531
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4			244
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011446	HP:0011446	Abnormality of higher mental function	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional		3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features			334
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0011446	HP:0011446	Abnormality of higher mental function	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease			572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			427
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			318
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA			96
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0011446	Abnormality of higher mental function	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8			1129
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly			28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1			52
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDP2 CL E G H	51567	17768	ORPHA:404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3			155
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type			42
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0011446	HP:0011446	Abnormality of higher mental function	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus			911
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor			1090
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor			2738
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0011446	HP:0011446	Abnormality of higher mental function	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant			6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0011446	HP:0011446	Abnormality of higher mental function	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	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:0011446	HP:0011446	Abnormality of higher mental function	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2			9
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF365 CL E G H	22891	18194	ORPHA:83465	Narcolepsy type 2			3
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome			4
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011446	HP:0011446	Abnormality of higher mental function	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011446	HP:0001249	Intellectual disability	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0011446	HP:0002167	Neurological speech impairment	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0011446	HP:0100543	Cognitive impairment	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	HP:0001249	Intellectual disability	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002167	Neurological speech impairment	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0011446	HP:0002186	Apraxia	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0011446	HP:0100543	Cognitive impairment	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0011446	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0011446	HP:0002167	Neurological speech impairment	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011446	HP:0002463	Language impairment	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011446	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0011446	HP:0002167	Neurological speech impairment	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0011446	HP:0100543	Cognitive impairment	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0011446	HP:0002463	Language impairment	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I			15
HP:0011446	HP:0001249	Intellectual disability	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0011446	HP:0100543	Cognitive impairment	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0011446	HP:0100543	Cognitive impairment	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		130
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0001249	Intellectual disability	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0011446	HP:0100543	Cognitive impairment	1	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0100543	Cognitive impairment	1	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002186	Apraxia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0100543	Cognitive impairment	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002463	Language impairment	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0010524	Agnosia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0011446	HP:0002167	Neurological speech impairment	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040281 - Very frequent		35
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0011446	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0011446	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0011446	HP:0001249	Intellectual disability	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0011446	HP:0002186	Apraxia	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0011446	HP:0001249	Intellectual disability	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0011446	HP:0001249	Intellectual disability	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0011446	HP:0002167	Neurological speech impairment	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011446	HP:0100543	Cognitive impairment	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0011446	HP:0002167	Neurological speech impairment	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0011446	HP:0100543	Cognitive impairment	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0011446	HP:0001249	Intellectual disability	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		135
HP:0011446	HP:0002167	Neurological speech impairment	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0002186	Apraxia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0100543	Cognitive impairment	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011446	HP:0010524	Agnosia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0011446	HP:0002167	Neurological speech impairment	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0011446	HP:0001249	Intellectual disability	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	HP:0002167	Neurological speech impairment	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	HP:0002463	Language impairment	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	HP:0001249	Intellectual disability	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0011446	HP:0002167	Neurological speech impairment	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0011446	HP:0002463	Language impairment	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0011446	HP:0002167	Neurological speech impairment	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0011446	HP:0002463	Language impairment	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0011446	HP:0002167	Neurological speech impairment	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0011446	HP:0002463	Language impairment	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0011446	HP:0002167	Neurological speech impairment	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0011446	HP:0002463	Language impairment	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0011446	HP:0001249	Intellectual disability	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.		91
HP:0011446	HP:0001249	Intellectual disability	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0011446	HP:0002167	Neurological speech impairment	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0011446	HP:0002463	Language impairment	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0011446	HP:0001249	Intellectual disability	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0011446	HP:0001249	Intellectual disability	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0011446	HP:0002167	Neurological speech impairment	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0011446	HP:0002463	Language impairment	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0011446	HP:0001249	Intellectual disability	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0011446	HP:0001249	Intellectual disability	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0011446	HP:0002167	Neurological speech impairment	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0011446	HP:0001249	Intellectual disability	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0011446	HP:0002167	Neurological speech impairment	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0011446	HP:0002463	Language impairment	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0011446	HP:0001249	Intellectual disability	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0011446	HP:0001249	Intellectual disability	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011446	HP:0002167	Neurological speech impairment	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011446	HP:0100543	Cognitive impairment	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011446	HP:0002463	Language impairment	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011446	HP:0001249	Intellectual disability	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0011446	HP:0001249	Intellectual disability	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0011446	HP:0002463	Language impairment	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0011446	HP:0001249	Intellectual disability	1	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		94
HP:0011446	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0002167	Neurological speech impairment	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0011446	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0011446	HP:0001249	Intellectual disability	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0002167	Neurological speech impairment	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0001249	Intellectual disability	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011446	HP:0002167	Neurological speech impairment	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0011446	HP:0001249	Intellectual disability	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0011446	HP:0001249	Intellectual disability	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011446	HP:0002167	Neurological speech impairment	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011446	HP:0002463	Language impairment	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011446	HP:0002463	Language impairment	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0100543	Cognitive impairment	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0002463	Language impairment	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0001249	Intellectual disability	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040283 - Occasional		49
HP:0011446	HP:0001249	Intellectual disability	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0002167	Neurological speech impairment	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0011446	HP:0002167	Neurological speech impairment	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011446	HP:0100543	Cognitive impairment	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011446	HP:0100543	Cognitive impairment	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0011446	HP:0002167	Neurological speech impairment	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011446	HP:0001249	Intellectual disability	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0011446	HP:0001249	Intellectual disability	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0011446	HP:0001249	Intellectual disability	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0011446	HP:0001249	Intellectual disability	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0011446	HP:0100543	Cognitive impairment	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent		84
HP:0011446	HP:0001249	Intellectual disability	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0011446	HP:0001249	Intellectual disability	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0011446	HP:0002463	Language impairment	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0011446	HP:0001249	Intellectual disability	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011446	HP:0002463	Language impairment	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011446	HP:0001249	Intellectual disability	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040281 - Very frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011446	HP:0002463	Language impairment	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0011446	HP:0001249	Intellectual disability	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0011446	HP:0002463	Language impairment	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0011446	HP:0002167	Neurological speech impairment	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0011446	HP:0002167	Neurological speech impairment	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0011446	HP:0001249	Intellectual disability	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0011446	HP:0002167	Neurological speech impairment	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0011446	HP:0002463	Language impairment	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0011446	HP:0002167	Neurological speech impairment	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0011446	HP:0100543	Cognitive impairment	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.		3
HP:0011446	HP:0002463	Language impairment	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0011446	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		88
HP:0011446	HP:0002463	Language impairment	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0011446	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0011446	HP:0002167	Neurological speech impairment	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0011446	HP:0002186	Apraxia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0011446	HP:0002463	Language impairment	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0011446	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0011446	HP:0001249	Intellectual disability	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0011446	HP:0002463	Language impairment	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR			88
HP:0011446	HP:0001249	Intellectual disability	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0011446	HP:0002167	Neurological speech impairment	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0011446	HP:0002463	Language impairment	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0011446	HP:0100543	Cognitive impairment	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		530
HP:0011446	HP:0002167	Neurological speech impairment	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0011446	HP:0100543	Cognitive impairment	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0011446	HP:0031908	Micrographia	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0011446	HP:0001249	Intellectual disability	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011446	HP:0002167	Neurological speech impairment	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0011446	HP:0002463	Language impairment	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0011446	HP:0002167	Neurological speech impairment	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent		47
HP:0011446	HP:0002463	Language impairment	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011446	HP:0001249	Intellectual disability	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0011446	HP:0002463	Language impairment	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0011446	HP:0001249	Intellectual disability	1	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0011446	HP:0002167	Neurological speech impairment	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0011446	HP:0002463	Language impairment	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0011446	HP:0001249	Intellectual disability	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0011446	HP:0002167	Neurological speech impairment	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0011446	HP:0002463	Language impairment	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0011446	HP:0001249	Intellectual disability	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0011446	HP:0002167	Neurological speech impairment	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0011446	HP:0002463	Language impairment	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0011446	HP:0002463	Language impairment	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0011446	HP:0001249	Intellectual disability	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011446	HP:0001249	Intellectual disability	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0011446	HP:0002167	Neurological speech impairment	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0011446	HP:0002186	Apraxia	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0011446	HP:0002167	Neurological speech impairment	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0011446	HP:0002186	Apraxia	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0011446	HP:0100543	Cognitive impairment	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	HP:0040283 - Occasional		86
HP:0011446	HP:0002167	Neurological speech impairment	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0011446	HP:0002167	Neurological speech impairment	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0011446	HP:0100543	Cognitive impairment	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040284 - Very rare		86
HP:0011446	HP:0001249	Intellectual disability	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0011446	HP:0001249	Intellectual disability	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0011446	HP:0002167	Neurological speech impairment	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0011446	HP:0002167	Neurological speech impairment	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0011446	HP:0002463	Language impairment	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0011446	HP:0002463	Language impairment	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0011446	HP:0001249	Intellectual disability	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0002167	Neurological speech impairment	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0002463	Language impairment	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0001249	Intellectual disability	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		85
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0011446	HP:0001249	Intellectual disability	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0011446	HP:0002167	Neurological speech impairment	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0011446	HP:0002167	Neurological speech impairment	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0011446	HP:0002463	Language impairment	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0011446	HP:0001249	Intellectual disability	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0011446	HP:0002463	Language impairment	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0011446	HP:0001249	Intellectual disability	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0011446	HP:0002167	Neurological speech impairment	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0011446	HP:0002463	Language impairment	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0011446	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0011446	HP:0002186	Apraxia	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011446	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0011446	HP:0002186	Apraxia	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0011446	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:0011446	HP:0002186	Apraxia	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0011446	HP:0001249	Intellectual disability	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0011446	HP:0001249	Intellectual disability	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1			5
HP:0011446	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.		60
HP:0011446	HP:0100543	Cognitive impairment	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	HP:0040283 - Occasional		60
HP:0011446	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0002167	Neurological speech impairment	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0011446	HP:0002463	Language impairment	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0011446	HP:0001249	Intellectual disability	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011446	HP:0002167	Neurological speech impairment	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011446	HP:0002463	Language impairment	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011446	HP:0001249	Intellectual disability	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		114
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0011446	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011446	HP:0100543	Cognitive impairment	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011446	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011446	HP:0002167	Neurological speech impairment	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0011446	HP:0100543	Cognitive impairment	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011446	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0011446	HP:0001249	Intellectual disability	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0011446	HP:0001249	Intellectual disability	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0011446	HP:0001249	Intellectual disability	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.		19
HP:0011446	HP:0001249	Intellectual disability	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0011446	HP:0002167	Neurological speech impairment	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0011446	HP:0100543	Cognitive impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0011446	HP:0100543	Cognitive impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0011446	HP:0002463	Language impairment	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0011446	HP:0001249	Intellectual disability	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0011446	HP:0001249	Intellectual disability	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0011446	HP:0002463	Language impairment	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0011446	HP:0001249	Intellectual disability	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent		87
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent		87
HP:0011446	HP:0001249	Intellectual disability	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0011446	HP:0001249	Intellectual disability	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent		74
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0011446	HP:0002463	Language impairment	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0011446	HP:0001249	Intellectual disability	1	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.		74
HP:0011446	HP:0001249	Intellectual disability	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0001249	Intellectual disability	1	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040281 - Very frequent		108
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0002463	Language impairment	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0001249	Intellectual disability	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0011446	HP:0002167	Neurological speech impairment	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0011446	HP:0002463	Language impairment	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0011446	HP:0001249	Intellectual disability	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0011446	HP:0002463	Language impairment	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0011446	HP:0001249	Intellectual disability	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	HP:0040283 - Occasional		50
HP:0011446	HP:0001249	Intellectual disability	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0011446	HP:0001249	Intellectual disability	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040281 - Very frequent		58
HP:0011446	HP:0001249	Intellectual disability	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent		41
HP:0011446	HP:0002167	Neurological speech impairment	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0011446	HP:0002463	Language impairment	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0011446	HP:0001249	Intellectual disability	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0011446	HP:0002167	Neurological speech impairment	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011446	HP:0002463	Language impairment	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011446	HP:0002167	Neurological speech impairment	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0011446	HP:0100543	Cognitive impairment	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0011446	HP:0002463	Language impairment	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0011446	HP:0001249	Intellectual disability	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0011446	HP:0002463	Language impairment	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0011446	HP:0001249	Intellectual disability	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0011446	HP:0001249	Intellectual disability	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0011446	HP:0002167	Neurological speech impairment	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011446	HP:0002463	Language impairment	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011446	HP:0001249	Intellectual disability	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040281 - Very frequent		93
HP:0011446	HP:0001249	Intellectual disability	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0011446	HP:0002167	Neurological speech impairment	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0011446	HP:0001249	Intellectual disability	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0011446	HP:0002167	Neurological speech impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011446	HP:0100543	Cognitive impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare		404
HP:0011446	HP:0002463	Language impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011446	HP:0001249	Intellectual disability	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		75
HP:0011446	HP:0100543	Cognitive impairment	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		75
HP:0011446	HP:0001249	Intellectual disability	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.		63
HP:0011446	HP:0100543	Cognitive impairment	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		63
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis			114
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0011446	HP:0100543	Cognitive impairment	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0011446	HP:0002167	Neurological speech impairment	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0011446	HP:0001249	Intellectual disability	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.		5
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0011446	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0011446	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	HP:0040283 - Occasional		132
HP:0011446	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0011446	HP:0001249	Intellectual disability	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0011446	HP:0002167	Neurological speech impairment	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0011446	HP:0100543	Cognitive impairment	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0011446	HP:0001249	Intellectual disability	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0011446	HP:0002167	Neurological speech impairment	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0011446	HP:0002463	Language impairment	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0011446	HP:0001249	Intellectual disability	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0002167	Neurological speech impairment	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011446	HP:0002167	Neurological speech impairment	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011446	HP:0002463	Language impairment	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0011446	HP:0002167	Neurological speech impairment	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0011446	HP:0002463	Language impairment	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0011446	HP:0001249	Intellectual disability	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0011446	HP:0001249	Intellectual disability	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0001249	Intellectual disability	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0011446	HP:0002167	Neurological speech impairment	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0011446	HP:0002463	Language impairment	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0011446	HP:0001249	Intellectual disability	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0011446	HP:0002167	Neurological speech impairment	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0011446	HP:0002463	Language impairment	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0011446	HP:0001249	Intellectual disability	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0011446	HP:0001249	Intellectual disability	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011446	HP:0002167	Neurological speech impairment	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011446	HP:0002463	Language impairment	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011446	HP:0001249	Intellectual disability	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0011446	HP:0002167	Neurological speech impairment	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011446	HP:0002463	Language impairment	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011446	HP:0001249	Intellectual disability	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0011446	HP:0002167	Neurological speech impairment	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0011446	HP:0001249	Intellectual disability	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	HP:0040283 - Occasional		64
HP:0011446	HP:0002167	Neurological speech impairment	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0011446	HP:0002167	Neurological speech impairment	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0011446	HP:0001249	Intellectual disability	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	HP:0040284 - Very rare		8
HP:0011446	HP:0002167	Neurological speech impairment	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011446	HP:0100543	Cognitive impairment	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011446	HP:0001249	Intellectual disability	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0011446	HP:0001249	Intellectual disability	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011446	HP:0002167	Neurological speech impairment	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011446	HP:0002463	Language impairment	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011446	HP:0001249	Intellectual disability	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0011446	HP:0002167	Neurological speech impairment	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0011446	HP:0002463	Language impairment	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0011446	HP:0001249	Intellectual disability	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0011446	HP:0002167	Neurological speech impairment	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0011446	HP:0001249	Intellectual disability	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011446	HP:0002463	Language impairment	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011446	HP:0001249	Intellectual disability	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011446	HP:0002167	Neurological speech impairment	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011446	HP:0002463	Language impairment	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0011446	HP:0100543	Cognitive impairment	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0011446	HP:0002463	Language impairment	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0011446	HP:0001249	Intellectual disability	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0011446	HP:0001249	Intellectual disability	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0011446	HP:0002463	Language impairment	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0011446	HP:0001249	Intellectual disability	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0011446	HP:0001249	Intellectual disability	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1			48
HP:0011446	HP:0001249	Intellectual disability	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0011446	HP:0001249	Intellectual disability	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0011446	HP:0001249	Intellectual disability	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0011446	HP:0002167	Neurological speech impairment	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0011446	HP:0001249	Intellectual disability	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0011446	HP:0001249	Intellectual disability	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0011446	HP:0100543	Cognitive impairment	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0011446	HP:0001249	Intellectual disability	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011446	HP:0001249	Intellectual disability	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0011446	HP:0002463	Language impairment	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0011446	HP:0001249	Intellectual disability	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0011446	HP:0002463	Language impairment	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0011446	HP:0100543	Cognitive impairment	1	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2			39
HP:0011446	HP:0002167	Neurological speech impairment	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0011446	HP:0002186	Apraxia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0011446	HP:0100543	Cognitive impairment	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0011446	HP:0010524	Agnosia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	HP:0040283 - Occasional		39
HP:0011446	HP:0031868	Optic ataxia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0011446	HP:0002186	Apraxia	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0100543	Cognitive impairment	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0100543	Cognitive impairment	1	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0100543	Cognitive impairment	1	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type			74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type			74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type			74
HP:0011446	HP:0001249	Intellectual disability	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	OMIM:104300	Alzheimer disease			74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related			74
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0002186	Apraxia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0100543	Cognitive impairment	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0002463	Language impairment	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0010524	Agnosia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0002167	Neurological speech impairment	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0011446	HP:0002186	Apraxia	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0011446	HP:0100543	Cognitive impairment	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0011446	HP:0001249	Intellectual disability	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.		75
HP:0011446	HP:0002167	Neurological speech impairment	1	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0011446	HP:0002167	Neurological speech impairment	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0011446	HP:0002463	Language impairment	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0011446	HP:0002167	Neurological speech impairment	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0011446	HP:0002463	Language impairment	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0011446	HP:0001249	Intellectual disability	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0011446	HP:0001249	Intellectual disability	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0011446	HP:0001249	Intellectual disability	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0011446	HP:0002167	Neurological speech impairment	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002167	Neurological speech impairment	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0011446	HP:0002463	Language impairment	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0011446	HP:0001249	Intellectual disability	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011446	HP:0001249	Intellectual disability	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0011446	HP:0001249	Intellectual disability	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0011446	HP:0001249	Intellectual disability	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011446	HP:0002463	Language impairment	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0011446	HP:0001249	Intellectual disability	1	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8			45
HP:0011446	HP:0001249	Intellectual disability	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011446	HP:0002463	Language impairment	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011446	HP:0001249	Intellectual disability	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011446	HP:0002463	Language impairment	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011446	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0011446	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011446	HP:0002463	Language impairment	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011446	HP:0001249	Intellectual disability	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011446	HP:0002463	Language impairment	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011446	HP:0001249	Intellectual disability	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011446	HP:0002463	Language impairment	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011446	HP:0001249	Intellectual disability	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0011446	HP:0002167	Neurological speech impairment	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0011446	HP:0002463	Language impairment	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0011446	HP:0001249	Intellectual disability	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0011446	HP:0002186	Apraxia	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011446	HP:0001249	Intellectual disability	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0002167	Neurological speech impairment	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0002186	Apraxia	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0002463	Language impairment	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0001249	Intellectual disability	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002186	Apraxia	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011446	HP:0002186	Apraxia	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011446	HP:0001249	Intellectual disability	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0011446	HP:0002167	Neurological speech impairment	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0011446	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011446	HP:0002167	Neurological speech impairment	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0011446	HP:0002463	Language impairment	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0011446	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0011446	HP:0001249	Intellectual disability	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0011446	HP:0100543	Cognitive impairment	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0011446	HP:0100543	Cognitive impairment	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011446	HP:0001249	Intellectual disability	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011446	HP:0001249	Intellectual disability	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0011446	HP:0002167	Neurological speech impairment	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0011446	HP:0002463	Language impairment	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0011446	HP:0001249	Intellectual disability	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0002167	Neurological speech impairment	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0002186	Apraxia	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0002463	Language impairment	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0001249	Intellectual disability	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0011446	HP:0002167	Neurological speech impairment	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0011446	HP:0100543	Cognitive impairment	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0011446	HP:0002167	Neurological speech impairment	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0100543	Cognitive impairment	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0002167	Neurological speech impairment	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0100543	Cognitive impairment	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0002167	Neurological speech impairment	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0100543	Cognitive impairment	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0002463	Language impairment	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0001249	Intellectual disability	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0002167	Neurological speech impairment	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0011446	HP:0001249	Intellectual disability	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040281 - Very frequent		166
HP:0011446	HP:0002167	Neurological speech impairment	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0011446	HP:0002167	Neurological speech impairment	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0011446	HP:0002463	Language impairment	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0011446	HP:0002463	Language impairment	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0011446	HP:0002167	Neurological speech impairment	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011446	HP:0001249	Intellectual disability	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0011446	HP:0100543	Cognitive impairment	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0011446	HP:0001249	Intellectual disability	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		15
HP:0011446	HP:0001249	Intellectual disability	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0002463	Language impairment	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0001249	Intellectual disability	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011446	HP:0001249	Intellectual disability	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040282 - Frequent		81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011446	HP:0002167	Neurological speech impairment	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0011446	HP:0002463	Language impairment	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0011446	HP:0002167	Neurological speech impairment	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011446	HP:0002463	Language impairment	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011446	HP:0001249	Intellectual disability	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0011446	HP:0001249	Intellectual disability	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0011446	HP:0002167	Neurological speech impairment	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011446	HP:0002463	Language impairment	1	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive			512
HP:0011446	HP:0100543	Cognitive impairment	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0011446	HP:0001249	Intellectual disability	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0002167	Neurological speech impairment	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0002463	Language impairment	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011446	HP:0002463	Language impairment	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent		49
HP:0011446	HP:0002167	Neurological speech impairment	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent		49
HP:0011446	HP:0002463	Language impairment	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011446	HP:0001249	Intellectual disability	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0002167	Neurological speech impairment	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0002463	Language impairment	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0001249	Intellectual disability	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0011446	HP:0002463	Language impairment	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0011446	HP:0002167	Neurological speech impairment	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0011446	HP:0002167	Neurological speech impairment	1	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0011446	HP:0002167	Neurological speech impairment	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011446	HP:0002463	Language impairment	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011446	HP:0001249	Intellectual disability	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0011446	HP:0001249	Intellectual disability	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0011446	HP:0002167	Neurological speech impairment	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0011446	HP:0001249	Intellectual disability	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0011446	HP:0002167	Neurological speech impairment	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0011446	HP:0002167	Neurological speech impairment	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011446	HP:0100543	Cognitive impairment	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional		3267
HP:0011446	HP:0002463	Language impairment	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011446	HP:0001249	Intellectual disability	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0011446	HP:0002167	Neurological speech impairment	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0011446	HP:0002463	Language impairment	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0011446	HP:0002167	Neurological speech impairment	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0011446	HP:0100543	Cognitive impairment	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	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:0011446	HP:0002167	Neurological speech impairment	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011446	HP:0002463	Language impairment	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0011446	HP:0100543	Cognitive impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent		100
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0011446	HP:0100543	Cognitive impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0011446	HP:0001249	Intellectual disability	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0002186	Apraxia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0011446	HP:0100543	Cognitive impairment	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0100543	Cognitive impairment	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0100543	Cognitive impairment	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability			4
HP:0011446	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	HP:0002186	Apraxia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	HP:0002463	Language impairment	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	HP:0001249	Intellectual disability	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.		239
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0011446	HP:0002463	Language impairment	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		239
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0011446	HP:0002186	Apraxia	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0011446	HP:0002463	Language impairment	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0011446	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0002186	Apraxia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0002463	Language impairment	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040283 - Occasional		150
HP:0011446	HP:0001249	Intellectual disability	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12			150
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0011446	HP:0100543	Cognitive impairment	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0011446	HP:0002463	Language impairment	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0011446	HP:0001249	Intellectual disability	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011446	HP:0001249	Intellectual disability	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011446	HP:0002463	Language impairment	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011446	HP:0001249	Intellectual disability	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3	.
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0011446	HP:0001249	Intellectual disability	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0011446	HP:0002463	Language impairment	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0011446	HP:0001249	Intellectual disability	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0011446	HP:0001249	Intellectual disability	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0011446	HP:0001249	Intellectual disability	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	HP:0002186	Apraxia	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	HP:0002463	Language impairment	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	HP:0010524	Agnosia	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0011446	HP:0002186	Apraxia	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0011446	HP:0002463	Language impairment	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0011446	HP:0010524	Agnosia	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011446	HP:0002463	Language impairment	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	HP:0002463	Language impairment	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011446	HP:0002463	Language impairment	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0011446	HP:0002463	Language impairment	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	HP:0002463	Language impairment	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0011446	HP:0002463	Language impairment	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0011446	HP:0002463	Language impairment	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0002463	Language impairment	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	HP:0100543	Cognitive impairment	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	HP:0002463	Language impairment	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		192
HP:0011446	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0011446	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0011446	HP:0001249	Intellectual disability	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent		192
HP:0011446	HP:0001249	Intellectual disability	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0011446	HP:0100543	Cognitive impairment	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011446	HP:0001249	Intellectual disability	1	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.		24
HP:0011446	HP:0002167	Neurological speech impairment	1	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4			24
HP:0011446	HP:0001249	Intellectual disability	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		24
HP:0011446	HP:0001249	Intellectual disability	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0011446	HP:0100543	Cognitive impairment	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0011446	HP:0001249	Intellectual disability	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0011446	HP:0001249	Intellectual disability	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0100543	Cognitive impairment	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0011446	HP:0001249	Intellectual disability	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0011446	HP:0100543	Cognitive impairment	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011446	HP:0001249	Intellectual disability	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0011446	HP:0031908	Micrographia	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0011446	HP:0002186	Apraxia	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0011446	HP:0002463	Language impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0011446	HP:0002463	Language impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0011446	HP:0002463	Language impairment	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0100543	Cognitive impairment	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0031908	Micrographia	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	HP:0002167	Neurological speech impairment	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0011446	HP:0002463	Language impairment	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0011446	HP:0002167	Neurological speech impairment	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	HP:0100543	Cognitive impairment	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	HP:0002463	Language impairment	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011446	HP:0002463	Language impairment	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011446	HP:0001249	Intellectual disability	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011446	HP:0002167	Neurological speech impairment	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011446	HP:0002463	Language impairment	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0011446	HP:0001249	Intellectual disability	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0011446	HP:0002167	Neurological speech impairment	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0011446	HP:0100543	Cognitive impairment	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0011446	HP:0002167	Neurological speech impairment	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011446	HP:0002463	Language impairment	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011446	HP:0001249	Intellectual disability	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0011446	HP:0001249	Intellectual disability	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0011446	HP:0001249	Intellectual disability	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0011446	HP:0001249	Intellectual disability	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0011446	HP:0002167	Neurological speech impairment	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0011446	HP:0001249	Intellectual disability	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0011446	HP:0001249	Intellectual disability	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0011446	HP:0002186	Apraxia	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011446	HP:0001249	Intellectual disability	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0011446	HP:0002186	Apraxia	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0011446	HP:0001249	Intellectual disability	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0002186	Apraxia	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011446	HP:0002167	Neurological speech impairment	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011446	HP:0002463	Language impairment	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011446	HP:0002167	Neurological speech impairment	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0011446	HP:0100543	Cognitive impairment	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011446	HP:0001249	Intellectual disability	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0011446	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0011446	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0011446	HP:0002463	Language impairment	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0011446	HP:0001249	Intellectual disability	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0011446	HP:0001249	Intellectual disability	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0011446	HP:0100543	Cognitive impairment	1	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.		118
HP:0011446	HP:0001249	Intellectual disability	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0011446	HP:0100543	Cognitive impairment	1	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.		71
HP:0011446	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0011446	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0011446	HP:0001249	Intellectual disability	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0011446	HP:0001249	Intellectual disability	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0011446	HP:0001249	Intellectual disability	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0011446	HP:0001249	Intellectual disability	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0011446	HP:0100543	Cognitive impairment	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5	.		25
HP:0011446	HP:0001249	Intellectual disability	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0011446	HP:0001249	Intellectual disability	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7			66
HP:0011446	HP:0001249	Intellectual disability	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0011446	HP:0001249	Intellectual disability	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0011446	HP:0002167	Neurological speech impairment	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0011446	HP:0002463	Language impairment	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0011446	HP:0001249	Intellectual disability	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0011446	HP:0001249	Intellectual disability	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0002167	Neurological speech impairment	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0002463	Language impairment	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0001249	Intellectual disability	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0011446	HP:0001249	Intellectual disability	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0011446	HP:0001249	Intellectual disability	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0011446	HP:0002167	Neurological speech impairment	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011446	HP:0002463	Language impairment	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011446	HP:0002463	Language impairment	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0011446	HP:0001249	Intellectual disability	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0011446	HP:0002167	Neurological speech impairment	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0011446	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0011446	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011446	HP:0001249	Intellectual disability	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0011446	HP:0001249	Intellectual disability	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011446	HP:0002167	Neurological speech impairment	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011446	HP:0002463	Language impairment	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011446	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:0011446	HP:0002186	Apraxia	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0011446	HP:0002463	Language impairment	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040283 - Occasional		72
HP:0011446	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	HP:0040283 - Occasional		72
HP:0011446	HP:0001249	Intellectual disability	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0011446	HP:0100543	Cognitive impairment	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0002167	Neurological speech impairment	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0011446	HP:0002167	Neurological speech impairment	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0011446	HP:0001249	Intellectual disability	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0011446	HP:0001249	Intellectual disability	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0011446	HP:0001249	Intellectual disability	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011446	HP:0001249	Intellectual disability	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0011446	HP:0002167	Neurological speech impairment	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0011446	HP:0002463	Language impairment	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0011446	HP:0001249	Intellectual disability	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0011446	HP:0002167	Neurological speech impairment	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0011446	HP:0001249	Intellectual disability	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011446	HP:0001249	Intellectual disability	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0011446	HP:0002167	Neurological speech impairment	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0011446	HP:0002186	Apraxia	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0011446	HP:0002463	Language impairment	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0011446	HP:0002463	Language impairment	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0011446	HP:0002167	Neurological speech impairment	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0011446	HP:0002463	Language impairment	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0011446	HP:0002167	Neurological speech impairment	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011446	HP:0100543	Cognitive impairment	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011446	HP:0010524	Agnosia	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011446	HP:0001249	Intellectual disability	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0011446	HP:0002167	Neurological speech impairment	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0011446	HP:0002463	Language impairment	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0011446	HP:0001249	Intellectual disability	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011446	HP:0002463	Language impairment	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011446	HP:0002463	Language impairment	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011446	HP:0002167	Neurological speech impairment	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011446	HP:0002186	Apraxia	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0011446	HP:0100543	Cognitive impairment	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011446	HP:0100543	Cognitive impairment	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7	.		276
HP:0011446	HP:0001249	Intellectual disability	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0011446	HP:0002463	Language impairment	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0011446	HP:0001249	Intellectual disability	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0011446	HP:0001249	Intellectual disability	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011446	HP:0002167	Neurological speech impairment	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011446	HP:0002463	Language impairment	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0011446	HP:0001249	Intellectual disability	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0011446	HP:0001249	Intellectual disability	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011446	HP:0002463	Language impairment	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0011446	HP:0001249	Intellectual disability	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0011446	HP:0002167	Neurological speech impairment	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0011446	HP:0002463	Language impairment	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0011446	HP:0001249	Intellectual disability	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0011446	HP:0002167	Neurological speech impairment	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0011446	HP:0002463	Language impairment	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0011446	HP:0001249	Intellectual disability	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		105
HP:0011446	HP:0002167	Neurological speech impairment	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0011446	HP:0100543	Cognitive impairment	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0011446	HP:0002463	Language impairment	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0011446	HP:0001249	Intellectual disability	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0011446	HP:0002167	Neurological speech impairment	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011446	HP:0100543	Cognitive impairment	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0011446	HP:0002463	Language impairment	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011446	HP:0001249	Intellectual disability	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0011446	HP:0001249	Intellectual disability	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011446	HP:0002167	Neurological speech impairment	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0011446	HP:0002463	Language impairment	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0011446	HP:0001249	Intellectual disability	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		76
HP:0011446	HP:0001249	Intellectual disability	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011446	HP:0001249	Intellectual disability	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0011446	HP:0002167	Neurological speech impairment	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0011446	HP:0002463	Language impairment	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0011446	HP:0001249	Intellectual disability	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0002167	Neurological speech impairment	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0011446	HP:0100543	Cognitive impairment	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0011446	HP:0002167	Neurological speech impairment	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0011446	HP:0100543	Cognitive impairment	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0011446	HP:0002463	Language impairment	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0011446	HP:0002167	Neurological speech impairment	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0011446	HP:0001249	Intellectual disability	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0011446	HP:0001249	Intellectual disability	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0011446	HP:0002167	Neurological speech impairment	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0011446	HP:0002463	Language impairment	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0011446	HP:0100543	Cognitive impairment	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0011446	HP:0002167	Neurological speech impairment	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0011446	HP:0002186	Apraxia	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0011446	HP:0002167	Neurological speech impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0011446	HP:0002167	Neurological speech impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0011446	HP:0002186	Apraxia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040282 - Frequent		56
HP:0011446	HP:0002167	Neurological speech impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0011446	HP:0002186	Apraxia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0011446	HP:0002463	Language impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0011446	HP:0002167	Neurological speech impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0011446	HP:0100543	Cognitive impairment	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0011446	HP:0010524	Agnosia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0011446	HP:0001249	Intellectual disability	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0011446	HP:0001249	Intellectual disability	1	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0011446	HP:0002167	Neurological speech impairment	1	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0011446	HP:0001249	Intellectual disability	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		8
HP:0011446	HP:0001249	Intellectual disability	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0011446	HP:0100543	Cognitive impairment	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		94
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0002186	Apraxia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0002463	Language impairment	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		449
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040283 - Occasional		449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		449
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome			449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0011446	HP:0002463	Language impairment	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0011446	HP:0002463	Language impairment	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0002463	Language impairment	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011446	HP:0002463	Language impairment	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0011446	HP:0002463	Language impairment	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0011446	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:0011446	HP:0002186	Apraxia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0011446	HP:0001249	Intellectual disability	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0011446	HP:0100543	Cognitive impairment	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0011446	HP:0002463	Language impairment	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0011446	HP:0002463	Language impairment	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0011446	HP:0002167	Neurological speech impairment	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0011446	HP:0001249	Intellectual disability	1	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10			5
HP:0011446	HP:0002167	Neurological speech impairment	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0011446	HP:0001249	Intellectual disability	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011446	HP:0002463	Language impairment	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011446	HP:0001249	Intellectual disability	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0002463	Language impairment	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0001249	Intellectual disability	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011446	HP:0002463	Language impairment	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011446	HP:0001249	Intellectual disability	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0002463	Language impairment	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0001249	Intellectual disability	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011446	HP:0002463	Language impairment	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0011446	HP:0001249	Intellectual disability	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011446	HP:0002167	Neurological speech impairment	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011446	HP:0100543	Cognitive impairment	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011446	HP:0002463	Language impairment	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0011446	HP:0001249	Intellectual disability	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0011446	HP:0001249	Intellectual disability	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		85
HP:0011446	HP:0002167	Neurological speech impairment	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011446	HP:0001249	Intellectual disability	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0002167	Neurological speech impairment	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0002463	Language impairment	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0002167	Neurological speech impairment	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0011446	HP:0002463	Language impairment	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0011446	HP:0100543	Cognitive impairment	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0011446	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		118
HP:0011446	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0011446	HP:0002463	Language impairment	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0011446	HP:0001249	Intellectual disability	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0011446	HP:0002167	Neurological speech impairment	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0011446	HP:0002463	Language impairment	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional		272
HP:0011446	HP:0001249	Intellectual disability	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0002463	Language impairment	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0011446	HP:0002167	Neurological speech impairment	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011446	HP:0002463	Language impairment	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011446	HP:0001249	Intellectual disability	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent		242
HP:0011446	HP:0001249	Intellectual disability	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0011446	HP:0001249	Intellectual disability	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002186	Apraxia	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0002167	Neurological speech impairment	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0002463	Language impairment	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0011446	HP:0002186	Apraxia	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0011446	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0011446	HP:0002186	Apraxia	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0011446	HP:0001249	Intellectual disability	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011446	HP:0002186	Apraxia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0011446	HP:0001249	Intellectual disability	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011446	HP:0002463	Language impairment	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0011446	HP:0002463	Language impairment	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0011446	HP:0001249	Intellectual disability	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0011446	HP:0001249	Intellectual disability	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0011446	HP:0002463	Language impairment	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011446	HP:0002463	Language impairment	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011446	HP:0002463	Language impairment	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011446	HP:0002463	Language impairment	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0002463	Language impairment	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0001249	Intellectual disability	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4			25
HP:0011446	HP:0001249	Intellectual disability	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0011446	HP:0002463	Language impairment	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.		54
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40			54
HP:0011446	HP:0002167	Neurological speech impairment	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent		54
HP:0011446	HP:0100543	Cognitive impairment	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		37
HP:0011446	HP:0002167	Neurological speech impairment	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0011446	HP:0002463	Language impairment	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0011446	HP:0002167	Neurological speech impairment	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	HP:0100543	Cognitive impairment	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	HP:0002167	Neurological speech impairment	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0002463	Language impairment	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0011446	HP:0100543	Cognitive impairment	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011446	HP:0001249	Intellectual disability	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0011446	HP:0001249	Intellectual disability	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011446	HP:0002463	Language impairment	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011446	HP:0002463	Language impairment	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011446	HP:0001249	Intellectual disability	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		31
HP:0011446	HP:0001249	Intellectual disability	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0011446	HP:0002463	Language impairment	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0011446	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0011446	HP:0001249	Intellectual disability	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0011446	HP:0001249	Intellectual disability	1	CDH15 CL E G H	1013	1754	OMIM:612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3			53
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011446	HP:0001249	Intellectual disability	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0011446	HP:0001249	Intellectual disability	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0011446	HP:0001249	Intellectual disability	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011446	HP:0002463	Language impairment	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011446	HP:0002463	Language impairment	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011446	HP:0001249	Intellectual disability	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011446	HP:0001249	Intellectual disability	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0011446	HP:0001249	Intellectual disability	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0011446	HP:0001249	Intellectual disability	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0011446	HP:0001249	Intellectual disability	1	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.		6
HP:0011446	HP:0001249	Intellectual disability	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011446	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0011446	HP:0002167	Neurological speech impairment	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0011446	HP:0002186	Apraxia	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0011446	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0011446	HP:0001249	Intellectual disability	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		405
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011446	HP:0002167	Neurological speech impairment	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011446	HP:0002463	Language impairment	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002167	Neurological speech impairment	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0002186	Apraxia	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0002463	Language impairment	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002167	Neurological speech impairment	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0002186	Apraxia	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0002463	Language impairment	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002167	Neurological speech impairment	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0002186	Apraxia	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0002463	Language impairment	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002167	Neurological speech impairment	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0002186	Apraxia	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0002463	Language impairment	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0001249	Intellectual disability	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002167	Neurological speech impairment	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011446	HP:0002463	Language impairment	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011446	HP:0001249	Intellectual disability	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		50
HP:0011446	HP:0001249	Intellectual disability	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011446	HP:0002167	Neurological speech impairment	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011446	HP:0002463	Language impairment	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011446	HP:0001249	Intellectual disability	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0011446	HP:0100543	Cognitive impairment	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0011446	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0011446	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0002167	Neurological speech impairment	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0002463	Language impairment	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0001249	Intellectual disability	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0011446	HP:0100543	Cognitive impairment	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0011446	HP:0100543	Cognitive impairment	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	HP:0040283 - Occasional		161
HP:0011446	HP:0001249	Intellectual disability	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0011446	HP:0001249	Intellectual disability	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0002186	Apraxia	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011446	HP:0002186	Apraxia	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0011446	HP:0001249	Intellectual disability	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002186	Apraxia	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011446	HP:0002186	Apraxia	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0011446	HP:0100543	Cognitive impairment	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0011446	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:0011446	HP:0002186	Apraxia	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0011446	HP:0001249	Intellectual disability	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0011446	HP:0001249	Intellectual disability	1	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive			38
HP:0011446	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0011446	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0100543	Cognitive impairment	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0001249	Intellectual disability	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.		146
HP:0011446	HP:0001249	Intellectual disability	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0011446	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0011446	HP:0002167	Neurological speech impairment	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0011446	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.		342
HP:0011446	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0011446	HP:0002186	Apraxia	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		342
HP:0011446	HP:0001249	Intellectual disability	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0011446	HP:0002186	Apraxia	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011446	HP:0001249	Intellectual disability	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.		90
HP:0011446	HP:0002186	Apraxia	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0011446	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:0011446	HP:0002186	Apraxia	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0011446	HP:0001249	Intellectual disability	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		17
HP:0011446	HP:0001249	Intellectual disability	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011446	HP:0001249	Intellectual disability	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0011446	HP:0001249	Intellectual disability	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0011446	HP:0002167	Neurological speech impairment	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0011446	HP:0002463	Language impairment	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0011446	HP:0001249	Intellectual disability	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0011446	HP:0001249	Intellectual disability	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0011446	HP:0010524	Agnosia	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0011446	HP:0001249	Intellectual disability	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0100543	Cognitive impairment	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0011446	HP:0002463	Language impairment	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0001249	Intellectual disability	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0011446	HP:0002167	Neurological speech impairment	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0001249	Intellectual disability	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0011446	HP:0002463	Language impairment	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0011446	HP:0001249	Intellectual disability	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0011446	HP:0002167	Neurological speech impairment	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0011446	HP:0100543	Cognitive impairment	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0011446	HP:0002167	Neurological speech impairment	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0100543	Cognitive impairment	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0002167	Neurological speech impairment	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0100543	Cognitive impairment	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0001249	Intellectual disability	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0011446	HP:0002167	Neurological speech impairment	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0011446	HP:0002463	Language impairment	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0011446	HP:0001249	Intellectual disability	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0011446	HP:0002167	Neurological speech impairment	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0011446	HP:0002167	Neurological speech impairment	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0011446	HP:0100543	Cognitive impairment	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0011446	HP:0002167	Neurological speech impairment	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0011446	HP:0002186	Apraxia	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0011446	HP:0100543	Cognitive impairment	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0011446	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:0011446	HP:0002186	Apraxia	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0011446	HP:0002186	Apraxia	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0011446	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		227
HP:0011446	HP:0100543	Cognitive impairment	1	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome			227
HP:0011446	HP:0001249	Intellectual disability	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		227
HP:0011446	HP:0002167	Neurological speech impairment	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011446	HP:0002463	Language impairment	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0011446	HP:0002167	Neurological speech impairment	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0011446	HP:0002186	Apraxia	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0011446	HP:0002463	Language impairment	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0011446	HP:0001249	Intellectual disability	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011446	HP:0002167	Neurological speech impairment	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011446	HP:0002463	Language impairment	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011446	HP:0001249	Intellectual disability	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0011446	HP:0001249	Intellectual disability	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0011446	HP:0002167	Neurological speech impairment	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0011446	HP:0001249	Intellectual disability	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0002167	Neurological speech impairment	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0002463	Language impairment	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0100543	Cognitive impairment	1	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011446	HP:0002463	Language impairment	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011446	HP:0001249	Intellectual disability	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0011446	HP:0002167	Neurological speech impairment	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0011446	HP:0002463	Language impairment	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0011446	HP:0001249	Intellectual disability	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0011446	HP:0002167	Neurological speech impairment	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011446	HP:0002463	Language impairment	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011446	HP:0002167	Neurological speech impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0011446	HP:0100543	Cognitive impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0011446	HP:0002167	Neurological speech impairment	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0011446	HP:0100543	Cognitive impairment	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0011446	HP:0002167	Neurological speech impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0011446	HP:0002186	Apraxia	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		42
HP:0011446	HP:0100543	Cognitive impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0011446	HP:0002463	Language impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0011446	HP:0002167	Neurological speech impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0011446	HP:0100543	Cognitive impairment	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0011446	HP:0010524	Agnosia	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0011446	HP:0001249	Intellectual disability	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0011446	HP:0100543	Cognitive impairment	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0011446	HP:0002167	Neurological speech impairment	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0011446	HP:0002167	Neurological speech impairment	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0011446	HP:0001249	Intellectual disability	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0011446	HP:0100543	Cognitive impairment	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		188
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4			188
HP:0011446	HP:0001249	Intellectual disability	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0011446	HP:0100543	Cognitive impairment	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		225
HP:0011446	HP:0001249	Intellectual disability	1	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1			225
HP:0011446	HP:0001249	Intellectual disability	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040282 - Frequent		52
HP:0011446	HP:0001249	Intellectual disability	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0011446	HP:0001249	Intellectual disability	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0011446	HP:0100543	Cognitive impairment	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0011446	HP:0002167	Neurological speech impairment	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0011446	HP:0100543	Cognitive impairment	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent		16
HP:0011446	HP:0002167	Neurological speech impairment	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome			16
HP:0011446	HP:0001249	Intellectual disability	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0011446	HP:0001249	Intellectual disability	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.		39
HP:0011446	HP:0002167	Neurological speech impairment	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0011446	HP:0002463	Language impairment	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0011446	HP:0002167	Neurological speech impairment	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0011446	HP:0001249	Intellectual disability	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0002167	Neurological speech impairment	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0011446	HP:0100543	Cognitive impairment	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0011446	HP:0001249	Intellectual disability	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0011446	HP:0002167	Neurological speech impairment	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type			16
HP:0011446	HP:0001249	Intellectual disability	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0011446	HP:0001249	Intellectual disability	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002167	Neurological speech impairment	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0011446	HP:0100543	Cognitive impairment	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040282 - Frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011446	HP:0002463	Language impairment	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0011446	HP:0002463	Language impairment	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0011446	HP:0001249	Intellectual disability	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0011446	HP:0001249	Intellectual disability	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0011446	HP:0002167	Neurological speech impairment	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0011446	HP:0002463	Language impairment	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0011446	HP:0001249	Intellectual disability	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0011446	HP:0001249	Intellectual disability	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0011446	HP:0001249	Intellectual disability	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0002167	Neurological speech impairment	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0002463	Language impairment	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0001249	Intellectual disability	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	HP:0002463	Language impairment	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0011446	HP:0002463	Language impairment	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0001249	Intellectual disability	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0011446	HP:0002167	Neurological speech impairment	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0011446	HP:0100543	Cognitive impairment	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0011446	HP:0002167	Neurological speech impairment	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0100543	Cognitive impairment	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0001249	Intellectual disability	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0011446	HP:0002167	Neurological speech impairment	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0011446	HP:0100543	Cognitive impairment	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0011446	HP:0100543	Cognitive impairment	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0011446	HP:0002463	Language impairment	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0011446	HP:0100543	Cognitive impairment	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive			143
HP:0011446	HP:0100543	Cognitive impairment	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0011446	HP:0002167	Neurological speech impairment	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0011446	HP:0002463	Language impairment	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0011446	HP:0001249	Intellectual disability	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0011446	HP:0100543	Cognitive impairment	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant			111
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0011446	HP:0100543	Cognitive impairment	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0011446	HP:0002463	Language impairment	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011446	HP:0001249	Intellectual disability	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0011446	HP:0002167	Neurological speech impairment	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011446	HP:0002463	Language impairment	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0011446	HP:0002167	Neurological speech impairment	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011446	HP:0002463	Language impairment	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011446	HP:0001249	Intellectual disability	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011446	HP:0002167	Neurological speech impairment	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0011446	HP:0002463	Language impairment	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0011446	HP:0001249	Intellectual disability	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0011446	HP:0001249	Intellectual disability	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0002186	Apraxia	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0100543	Cognitive impairment	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0002463	Language impairment	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0100543	Cognitive impairment	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002463	Language impairment	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0001249	Intellectual disability	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0011446	HP:0001249	Intellectual disability	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0011446	HP:0002167	Neurological speech impairment	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0011446	HP:0002463	Language impairment	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0011446	HP:0100543	Cognitive impairment	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0011446	HP:0002463	Language impairment	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0011446	HP:0001249	Intellectual disability	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0011446	HP:0002167	Neurological speech impairment	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0011446	HP:0002463	Language impairment	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0011446	HP:0001249	Intellectual disability	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	HP:0002463	Language impairment	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0011446	HP:0001249	Intellectual disability	1	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0002167	Neurological speech impairment	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0100543	Cognitive impairment	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0002463	Language impairment	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0100543	Cognitive impairment	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0002463	Language impairment	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0011446	HP:0100543	Cognitive impairment	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14			2
HP:0011446	HP:0002167	Neurological speech impairment	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0011446	HP:0001249	Intellectual disability	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011446	HP:0002167	Neurological speech impairment	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011446	HP:0002463	Language impairment	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0011446	HP:0002463	Language impairment	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0011446	HP:0002167	Neurological speech impairment	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration			16
HP:0011446	HP:0100543	Cognitive impairment	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent		16
HP:0011446	HP:0002167	Neurological speech impairment	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0011446	HP:0100543	Cognitive impairment	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0011446	HP:0001249	Intellectual disability	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0011446	HP:0002167	Neurological speech impairment	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011446	HP:0002463	Language impairment	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011446	HP:0001249	Intellectual disability	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0011446	HP:0100543	Cognitive impairment	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0011446	HP:0002167	Neurological speech impairment	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011446	HP:0002463	Language impairment	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011446	HP:0002167	Neurological speech impairment	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011446	HP:0002463	Language impairment	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0011446	HP:0002167	Neurological speech impairment	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0011446	HP:0002463	Language impairment	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0011446	HP:0001249	Intellectual disability	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011446	HP:0002167	Neurological speech impairment	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011446	HP:0002463	Language impairment	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011446	HP:0001249	Intellectual disability	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0011446	HP:0002167	Neurological speech impairment	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0011446	HP:0002463	Language impairment	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0011446	HP:0001249	Intellectual disability	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011446	HP:0002463	Language impairment	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0011446	HP:0001249	Intellectual disability	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0011446	HP:0002167	Neurological speech impairment	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0011446	HP:0002463	Language impairment	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome			71
HP:0011446	HP:0001249	Intellectual disability	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0011446	HP:0002167	Neurological speech impairment	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0011446	HP:0001249	Intellectual disability	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0011446	HP:0002167	Neurological speech impairment	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0011446	HP:0002463	Language impairment	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0011446	HP:0001249	Intellectual disability	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0011446	HP:0002167	Neurological speech impairment	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0011446	HP:0001249	Intellectual disability	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0011446	HP:0002167	Neurological speech impairment	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0011446	HP:0002167	Neurological speech impairment	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0011446	HP:0001249	Intellectual disability	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011446	HP:0001249	Intellectual disability	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040283 - Occasional		284
HP:0011446	HP:0001249	Intellectual disability	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040283 - Occasional		284
HP:0011446	HP:0001249	Intellectual disability	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent		749
HP:0011446	HP:0002167	Neurological speech impairment	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011446	HP:0002463	Language impairment	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011446	HP:0100543	Cognitive impairment	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0011446	HP:0001249	Intellectual disability	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0011446	HP:0002167	Neurological speech impairment	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27			702
HP:0011446	HP:0002167	Neurological speech impairment	1	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type			702
HP:0011446	HP:0001249	Intellectual disability	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0011446	HP:0001249	Intellectual disability	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.		3
HP:0011446	HP:0001249	Intellectual disability	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional		9
HP:0011446	HP:0002167	Neurological speech impairment	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0011446	HP:0001249	Intellectual disability	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0011446	HP:0001249	Intellectual disability	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0002167	Neurological speech impairment	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011446	HP:0100543	Cognitive impairment	1	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA			6
HP:0011446	HP:0001249	Intellectual disability	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0002167	Neurological speech impairment	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0002463	Language impairment	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0001249	Intellectual disability	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0011446	HP:0001249	Intellectual disability	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0001249	Intellectual disability	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0011446	HP:0002167	Neurological speech impairment	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0011446	HP:0002167	Neurological speech impairment	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0011446	HP:0100543	Cognitive impairment	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	HP:0040283 - Occasional		54
HP:0011446	HP:0002167	Neurological speech impairment	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0011446	HP:0002167	Neurological speech impairment	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0011446	HP:0001249	Intellectual disability	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0011446	HP:0001249	Intellectual disability	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0011446	HP:0001249	Intellectual disability	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional		136
HP:0011446	HP:0002167	Neurological speech impairment	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011446	HP:0002167	Neurological speech impairment	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001249	Intellectual disability	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011446	HP:0002167	Neurological speech impairment	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0011446	HP:0002167	Neurological speech impairment	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0011446	HP:0002463	Language impairment	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0011446	HP:0002167	Neurological speech impairment	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011446	HP:0002167	Neurological speech impairment	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011446	HP:0100543	Cognitive impairment	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0011446	HP:0002167	Neurological speech impairment	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0011446	HP:0002167	Neurological speech impairment	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011446	HP:0100543	Cognitive impairment	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011446	HP:0100543	Cognitive impairment	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0011446	HP:0001249	Intellectual disability	1	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5			49
HP:0011446	HP:0001249	Intellectual disability	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0011446	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011446	HP:0002186	Apraxia	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0011446	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0011446	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0011446	HP:0002463	Language impairment	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0011446	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0011446	HP:0002463	Language impairment	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0011446	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0011446	HP:0001249	Intellectual disability	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0011446	HP:0001249	Intellectual disability	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0011446	HP:0002167	Neurological speech impairment	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent		99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0011446	HP:0001249	Intellectual disability	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0011446	HP:0002463	Language impairment	1	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly			6
HP:0011446	HP:0002167	Neurological speech impairment	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0011446	HP:0002463	Language impairment	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0011446	HP:0001249	Intellectual disability	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		156
HP:0011446	HP:0001249	Intellectual disability	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0011446	HP:0001249	Intellectual disability	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	HP:0002167	Neurological speech impairment	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	HP:0002463	Language impairment	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011446	HP:0001249	Intellectual disability	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011446	HP:0002167	Neurological speech impairment	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011446	HP:0002463	Language impairment	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011446	HP:0100543	Cognitive impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011446	HP:0002463	Language impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011446	HP:0100543	Cognitive impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011446	HP:0002463	Language impairment	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011446	HP:0001249	Intellectual disability	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0011446	HP:0100543	Cognitive impairment	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011446	HP:0002463	Language impairment	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040282 - Frequent		24
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		158
HP:0011446	HP:0001249	Intellectual disability	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0011446	HP:0002167	Neurological speech impairment	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0011446	HP:0001249	Intellectual disability	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011446	HP:0002167	Neurological speech impairment	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011446	HP:0100543	Cognitive impairment	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0011446	HP:0002167	Neurological speech impairment	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0011446	HP:0002186	Apraxia	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0011446	HP:0100543	Cognitive impairment	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0011446	HP:0001249	Intellectual disability	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011446	HP:0002167	Neurological speech impairment	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011446	HP:0002463	Language impairment	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0011446	HP:0001249	Intellectual disability	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0002186	Apraxia	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0011446	HP:0002186	Apraxia	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0011446	HP:0002167	Neurological speech impairment	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0011446	HP:0002186	Apraxia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0011446	HP:0002463	Language impairment	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0011446	HP:0100543	Cognitive impairment	1	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI			3
HP:0011446	HP:0001249	Intellectual disability	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0002167	Neurological speech impairment	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0100543	Cognitive impairment	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0001249	Intellectual disability	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		51
HP:0011446	HP:0002167	Neurological speech impairment	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0011446	HP:0100543	Cognitive impairment	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0011446	HP:0002463	Language impairment	1	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011446	HP:0100543	Cognitive impairment	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011446	HP:0001249	Intellectual disability	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0011446	HP:0002167	Neurological speech impairment	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011446	HP:0002463	Language impairment	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011446	HP:0001249	Intellectual disability	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011446	HP:0001249	Intellectual disability	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0011446	HP:0100543	Cognitive impairment	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0011446	HP:0001249	Intellectual disability	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0011446	HP:0001249	Intellectual disability	1	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040282 - Frequent		38
HP:0011446	HP:0001249	Intellectual disability	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0011446	HP:0002167	Neurological speech impairment	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0011446	HP:0002463	Language impairment	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0011446	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0011446	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0011446	HP:0001249	Intellectual disability	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0011446	HP:0001249	Intellectual disability	1	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		15
HP:0011446	HP:0001249	Intellectual disability	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0011446	HP:0100543	Cognitive impairment	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011446	HP:0100543	Cognitive impairment	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0011446	HP:0001249	Intellectual disability	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent		51
HP:0011446	HP:0001249	Intellectual disability	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0011446	HP:0001249	Intellectual disability	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0011446	HP:0100543	Cognitive impairment	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0011446	HP:0002167	Neurological speech impairment	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0011446	HP:0100543	Cognitive impairment	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0011446	HP:0100543	Cognitive impairment	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0011446	HP:0002463	Language impairment	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0011446	HP:0100543	Cognitive impairment	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0011446	HP:0002463	Language impairment	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0011446	HP:0001249	Intellectual disability	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011446	HP:0002167	Neurological speech impairment	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011446	HP:0002463	Language impairment	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011446	HP:0001249	Intellectual disability	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011446	HP:0002167	Neurological speech impairment	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0011446	HP:0002463	Language impairment	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011446	HP:0002463	Language impairment	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011446	HP:0002167	Neurological speech impairment	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011446	HP:0002463	Language impairment	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011446	HP:0001249	Intellectual disability	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011446	HP:0002167	Neurological speech impairment	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011446	HP:0002186	Apraxia	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011446	HP:0002463	Language impairment	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0011446	HP:0001249	Intellectual disability	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.		9
HP:0011446	HP:0002167	Neurological speech impairment	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0002186	Apraxia	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0002463	Language impairment	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0002167	Neurological speech impairment	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0011446	HP:0001249	Intellectual disability	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0011446	HP:0001249	Intellectual disability	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0011446	HP:0100543	Cognitive impairment	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	HP:0002167	Neurological speech impairment	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011446	HP:0002463	Language impairment	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0100543	Cognitive impairment	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002463	Language impairment	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0100543	Cognitive impairment	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0001249	Intellectual disability	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0011446	HP:0001249	Intellectual disability	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0011446	HP:0001249	Intellectual disability	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0011446	HP:0002167	Neurological speech impairment	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0002167	Neurological speech impairment	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0100543	Cognitive impairment	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0011446	HP:0100543	Cognitive impairment	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional		18
HP:0011446	HP:0001249	Intellectual disability	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0011446	HP:0100543	Cognitive impairment	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	HP:0040283 - Occasional		18
HP:0011446	HP:0100543	Cognitive impairment	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		54
HP:0011446	HP:0002167	Neurological speech impairment	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0011446	HP:0002167	Neurological speech impairment	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0011446	HP:0100543	Cognitive impairment	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional		57
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0011446	HP:0100543	Cognitive impairment	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001249	Intellectual disability	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0011446	HP:0002167	Neurological speech impairment	1	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37			4
HP:0011446	HP:0002167	Neurological speech impairment	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0011446	HP:0001249	Intellectual disability	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0011446	HP:0002167	Neurological speech impairment	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0011446	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0011446	HP:0002167	Neurological speech impairment	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0011446	HP:0002463	Language impairment	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0011446	HP:0002167	Neurological speech impairment	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0011446	HP:0002463	Language impairment	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0011446	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0011446	HP:0002167	Neurological speech impairment	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0011446	HP:0002463	Language impairment	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0011446	HP:0001249	Intellectual disability	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0011446	HP:0002167	Neurological speech impairment	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011446	HP:0002463	Language impairment	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011446	HP:0001249	Intellectual disability	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0100543	Cognitive impairment	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0011446	HP:0002463	Language impairment	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0011446	HP:0002167	Neurological speech impairment	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0011446	HP:0100543	Cognitive impairment	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	HP:0040283 - Occasional		60
HP:0011446	HP:0001249	Intellectual disability	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0011446	HP:0001249	Intellectual disability	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0011446	HP:0001249	Intellectual disability	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0002167	Neurological speech impairment	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0002167	Neurological speech impairment	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0100543	Cognitive impairment	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0011446	HP:0001249	Intellectual disability	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0011446	HP:0002463	Language impairment	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0011446	HP:0100543	Cognitive impairment	1	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		36
HP:0011446	HP:0002167	Neurological speech impairment	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0011446	HP:0001249	Intellectual disability	1	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1			36
HP:0011446	HP:0001249	Intellectual disability	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0011446	HP:0001249	Intellectual disability	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0011446	HP:0001249	Intellectual disability	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0011446	HP:0002167	Neurological speech impairment	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0011446	HP:0002463	Language impairment	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0011446	HP:0002167	Neurological speech impairment	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0011446	HP:0002167	Neurological speech impairment	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0011446	HP:0100543	Cognitive impairment	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0011446	HP:0100543	Cognitive impairment	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0011446	HP:0100543	Cognitive impairment	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040281 - Very frequent		145
HP:0011446	HP:0002463	Language impairment	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040281 - Very frequent		145
HP:0011446	HP:0001249	Intellectual disability	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0011446	HP:0002167	Neurological speech impairment	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0011446	HP:0001249	Intellectual disability	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011446	HP:0001249	Intellectual disability	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011446	HP:0100543	Cognitive impairment	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0011446	HP:0001249	Intellectual disability	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0011446	HP:0002167	Neurological speech impairment	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0011446	HP:0002167	Neurological speech impairment	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0011446	HP:0002186	Apraxia	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0011446	HP:0001249	Intellectual disability	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0011446	HP:0001249	Intellectual disability	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.		2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011446	HP:0002463	Language impairment	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011446	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0011446	HP:0002167	Neurological speech impairment	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0011446	HP:0002463	Language impairment	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0011446	HP:0002463	Language impairment	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0011446	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0011446	HP:0001249	Intellectual disability	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002167	Neurological speech impairment	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002463	Language impairment	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011446	HP:0002167	Neurological speech impairment	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011446	HP:0002463	Language impairment	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011446	HP:0002167	Neurological speech impairment	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011446	HP:0002463	Language impairment	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011446	HP:0002167	Neurological speech impairment	1	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features			172
HP:0011446	HP:0001249	Intellectual disability	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0011446	HP:0100543	Cognitive impairment	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		172
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci			172
HP:0011446	HP:0100543	Cognitive impairment	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		172
HP:0011446	HP:0001249	Intellectual disability	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0001249	Intellectual disability	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0001249	Intellectual disability	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0011446	HP:0100543	Cognitive impairment	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0011446	HP:0002167	Neurological speech impairment	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0011446	HP:0100543	Cognitive impairment	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0011446	HP:0001249	Intellectual disability	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0011446	HP:0001249	Intellectual disability	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011446	HP:0001249	Intellectual disability	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0011446	HP:0002463	Language impairment	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0011446	HP:0100543	Cognitive impairment	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0011446	HP:0002463	Language impairment	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0011446	HP:0001249	Intellectual disability	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0011446	HP:0002167	Neurological speech impairment	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011446	HP:0002463	Language impairment	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011446	HP:0002167	Neurological speech impairment	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0011446	HP:0002463	Language impairment	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0011446	HP:0001249	Intellectual disability	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011446	HP:0002463	Language impairment	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0011446	HP:0001249	Intellectual disability	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		118
HP:0011446	HP:0002167	Neurological speech impairment	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0011446	HP:0001249	Intellectual disability	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type	.		4
HP:0011446	HP:0001249	Intellectual disability	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0011446	HP:0100543	Cognitive impairment	1	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0002186	Apraxia	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0002463	Language impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0002186	Apraxia	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0002463	Language impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0002186	Apraxia	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0002463	Language impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0002186	Apraxia	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0002463	Language impairment	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0001249	Intellectual disability	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011446	HP:0002463	Language impairment	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011446	HP:0001249	Intellectual disability	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011446	HP:0001249	Intellectual disability	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0011446	HP:0001249	Intellectual disability	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0001249	Intellectual disability	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0002167	Neurological speech impairment	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0002167	Neurological speech impairment	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0002186	Apraxia	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0002186	Apraxia	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0100543	Cognitive impairment	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0011446	HP:0002167	Neurological speech impairment	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0011446	HP:0002463	Language impairment	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0011446	HP:0001249	Intellectual disability	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0011446	HP:0002167	Neurological speech impairment	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0011446	HP:0002463	Language impairment	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0011446	HP:0001249	Intellectual disability	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	HP:0002463	Language impairment	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	HP:0002463	Language impairment	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0002463	Language impairment	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0002186	Apraxia	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0002463	Language impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0002186	Apraxia	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0002463	Language impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	HP:0002186	Apraxia	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	HP:0002463	Language impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0002186	Apraxia	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0002463	Language impairment	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0001249	Intellectual disability	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011446	HP:0002463	Language impairment	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011446	HP:0001249	Intellectual disability	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0011446	HP:0001249	Intellectual disability	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011446	HP:0002167	Neurological speech impairment	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011446	HP:0002167	Neurological speech impairment	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0011446	HP:0002463	Language impairment	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0011446	HP:0001249	Intellectual disability	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1			3
HP:0011446	HP:0001249	Intellectual disability	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0011446	HP:0002167	Neurological speech impairment	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0011446	HP:0100543	Cognitive impairment	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0011446	HP:0002463	Language impairment	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0011446	HP:0002167	Neurological speech impairment	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0002186	Apraxia	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0100543	Cognitive impairment	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0002463	Language impairment	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0001249	Intellectual disability	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011446	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0011446	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0011446	HP:0001249	Intellectual disability	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011446	HP:0002167	Neurological speech impairment	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0011446	HP:0002167	Neurological speech impairment	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011446	HP:0002463	Language impairment	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011446	HP:0002463	Language impairment	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011446	HP:0002463	Language impairment	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.		27
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011446	HP:0002463	Language impairment	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011446	HP:0002463	Language impairment	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0002463	Language impairment	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011446	HP:0002463	Language impairment	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011446	HP:0002463	Language impairment	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011446	HP:0002463	Language impairment	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011446	HP:0002463	Language impairment	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011446	HP:0002463	Language impairment	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011446	HP:0002463	Language impairment	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5			30
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1			103
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0002463	Language impairment	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0100543	Cognitive impairment	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0011446	HP:0100543	Cognitive impairment	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	HP:0040283 - Occasional		3
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant			155
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0011446	HP:0001249	Intellectual disability	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	HP:0040283 - Occasional		6
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0011446	HP:0100543	Cognitive impairment	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.		6
HP:0011446	HP:0100543	Cognitive impairment	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0011446	HP:0002167	Neurological speech impairment	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011446	HP:0002463	Language impairment	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0011446	HP:0001249	Intellectual disability	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0011446	HP:0001249	Intellectual disability	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0011446	HP:0002167	Neurological speech impairment	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0011446	HP:0002463	Language impairment	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0011446	HP:0001249	Intellectual disability	1	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0100543	Cognitive impairment	1	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome			72
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0011446	HP:0100543	Cognitive impairment	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0011446	HP:0002463	Language impairment	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0011446	HP:0100543	Cognitive impairment	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0011446	HP:0002167	Neurological speech impairment	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011446	HP:0002463	Language impairment	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011446	HP:0002186	Apraxia	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0011446	HP:0100543	Cognitive impairment	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0011446	HP:0100543	Cognitive impairment	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0011446	HP:0100543	Cognitive impairment	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0011446	HP:0002167	Neurological speech impairment	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011446	HP:0002463	Language impairment	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011446	HP:0002167	Neurological speech impairment	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0011446	HP:0001249	Intellectual disability	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0011446	HP:0001249	Intellectual disability	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.		44
HP:0011446	HP:0001249	Intellectual disability	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0011446	HP:0001249	Intellectual disability	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.		79
HP:0011446	HP:0002167	Neurological speech impairment	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0011446	HP:0002463	Language impairment	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0011446	HP:0001249	Intellectual disability	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0011446	HP:0001249	Intellectual disability	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0002167	Neurological speech impairment	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0002463	Language impairment	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0011446	HP:0001249	Intellectual disability	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	HP:0002167	Neurological speech impairment	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	HP:0002463	Language impairment	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	HP:0001249	Intellectual disability	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities			9
HP:0011446	HP:0001249	Intellectual disability	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0011446	HP:0001249	Intellectual disability	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011446	HP:0002167	Neurological speech impairment	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011446	HP:0002463	Language impairment	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011446	HP:0001249	Intellectual disability	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002463	Language impairment	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0001249	Intellectual disability	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011446	HP:0002167	Neurological speech impairment	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011446	HP:0002463	Language impairment	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	HP:0002167	Neurological speech impairment	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	HP:0002463	Language impairment	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	HP:0002167	Neurological speech impairment	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011446	HP:0002463	Language impairment	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011446	HP:0001249	Intellectual disability	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0011446	HP:0001249	Intellectual disability	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0011446	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0011446	HP:0002167	Neurological speech impairment	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0011446	HP:0002463	Language impairment	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0011446	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0011446	HP:0001249	Intellectual disability	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0002167	Neurological speech impairment	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0002167	Neurological speech impairment	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0002463	Language impairment	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0002463	Language impairment	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0001249	Intellectual disability	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0011446	HP:0002167	Neurological speech impairment	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0011446	HP:0002463	Language impairment	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0011446	HP:0001249	Intellectual disability	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0002167	Neurological speech impairment	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0002463	Language impairment	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0002167	Neurological speech impairment	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011446	HP:0002463	Language impairment	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0011446	HP:0100543	Cognitive impairment	1	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA			21
HP:0011446	HP:0002167	Neurological speech impairment	1	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1			21
HP:0011446	HP:0001249	Intellectual disability	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040283 - Occasional		63
HP:0011446	HP:0100543	Cognitive impairment	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040283 - Occasional		63
HP:0011446	HP:0001249	Intellectual disability	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011446	HP:0001249	Intellectual disability	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0011446	HP:0001249	Intellectual disability	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0011446	HP:0001249	Intellectual disability	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0011446	HP:0001249	Intellectual disability	1	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.		11
HP:0011446	HP:0002167	Neurological speech impairment	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011446	HP:0001249	Intellectual disability	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0011446	HP:0001249	Intellectual disability	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040281 - Very frequent		65
HP:0011446	HP:0002167	Neurological speech impairment	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0011446	HP:0002463	Language impairment	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0011446	HP:0002167	Neurological speech impairment	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0011446	HP:0002463	Language impairment	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0011446	HP:0001249	Intellectual disability	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.		427
HP:0011446	HP:0001249	Intellectual disability	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0011446	HP:0002167	Neurological speech impairment	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0011446	HP:0002463	Language impairment	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0011446	HP:0002167	Neurological speech impairment	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0011446	HP:0002463	Language impairment	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0011446	HP:0001249	Intellectual disability	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		7
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011446	HP:0002463	Language impairment	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0011446	HP:0002463	Language impairment	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0011446	HP:0001249	Intellectual disability	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0002167	Neurological speech impairment	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0002463	Language impairment	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0100543	Cognitive impairment	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		4
HP:0011446	HP:0002167	Neurological speech impairment	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0011446	HP:0002463	Language impairment	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0011446	HP:0001249	Intellectual disability	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0002167	Neurological speech impairment	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0002186	Apraxia	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0002463	Language impairment	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0011446	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0011446	HP:0001249	Intellectual disability	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0011446	HP:0001249	Intellectual disability	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		13
HP:0011446	HP:0001249	Intellectual disability	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011446	HP:0002167	Neurological speech impairment	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0011446	HP:0100543	Cognitive impairment	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011446	HP:0002167	Neurological speech impairment	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011446	HP:0001249	Intellectual disability	1	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.		1
HP:0011446	HP:0001249	Intellectual disability	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011446	HP:0001249	Intellectual disability	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		67
HP:0011446	HP:0100543	Cognitive impairment	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		67
HP:0011446	HP:0001249	Intellectual disability	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		55
HP:0011446	HP:0001249	Intellectual disability	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011446	HP:0002463	Language impairment	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0011446	HP:0002463	Language impairment	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0011446	HP:0001249	Intellectual disability	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0011446	HP:0002167	Neurological speech impairment	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0011446	HP:0002463	Language impairment	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0011446	HP:0100543	Cognitive impairment	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0011446	HP:0002463	Language impairment	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0011446	HP:0002167	Neurological speech impairment	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0011446	HP:0002167	Neurological speech impairment	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0011446	HP:0002167	Neurological speech impairment	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011446	HP:0002463	Language impairment	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011446	HP:0001249	Intellectual disability	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0011446	HP:0002463	Language impairment	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0011446	HP:0001249	Intellectual disability	1	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0011446	HP:0001249	Intellectual disability	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011446	HP:0002167	Neurological speech impairment	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011446	HP:0002463	Language impairment	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0011446	HP:0002463	Language impairment	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0011446	HP:0002463	Language impairment	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0011446	HP:0001249	Intellectual disability	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0011446	HP:0002463	Language impairment	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0011446	HP:0001249	Intellectual disability	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0011446	HP:0100543	Cognitive impairment	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0011446	HP:0100543	Cognitive impairment	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0011446	HP:0100543	Cognitive impairment	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0011446	HP:0100543	Cognitive impairment	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0011446	HP:0100543	Cognitive impairment	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0011446	HP:0001249	Intellectual disability	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0011446	HP:0002463	Language impairment	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0011446	HP:0002463	Language impairment	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0011446	HP:0002463	Language impairment	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0011446	HP:0100543	Cognitive impairment	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0011446	HP:0001249	Intellectual disability	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0011446	HP:0002167	Neurological speech impairment	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0011446	HP:0001249	Intellectual disability	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011446	HP:0002167	Neurological speech impairment	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0011446	HP:0001249	Intellectual disability	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0011446	HP:0002167	Neurological speech impairment	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0011446	HP:0002167	Neurological speech impairment	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0011446	HP:0002167	Neurological speech impairment	1	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38			4
HP:0011446	HP:0002167	Neurological speech impairment	1	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0011446	HP:0001249	Intellectual disability	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0011446	HP:0002167	Neurological speech impairment	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0011446	HP:0002463	Language impairment	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0011446	HP:0001249	Intellectual disability	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011446	HP:0002463	Language impairment	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011446	HP:0002463	Language impairment	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011446	HP:0002167	Neurological speech impairment	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011446	HP:0002463	Language impairment	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011446	HP:0001249	Intellectual disability	1	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0011446	HP:0001249	Intellectual disability	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0011446	HP:0002167	Neurological speech impairment	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011446	HP:0002463	Language impairment	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011446	HP:0001249	Intellectual disability	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0011446	HP:0001249	Intellectual disability	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0011446	HP:0001249	Intellectual disability	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011446	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0011446	HP:0002167	Neurological speech impairment	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0011446	HP:0002463	Language impairment	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0011446	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011446	HP:0002167	Neurological speech impairment	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011446	HP:0002463	Language impairment	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011446	HP:0001249	Intellectual disability	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011446	HP:0002167	Neurological speech impairment	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011446	HP:0002463	Language impairment	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011446	HP:0100543	Cognitive impairment	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011446	HP:0002463	Language impairment	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011446	HP:0002167	Neurological speech impairment	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0011446	HP:0001249	Intellectual disability	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0011446	HP:0002167	Neurological speech impairment	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011446	HP:0100543	Cognitive impairment	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011446	HP:0010524	Agnosia	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011446	HP:0001249	Intellectual disability	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent		40
HP:0011446	HP:0002167	Neurological speech impairment	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011446	HP:0100543	Cognitive impairment	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011446	HP:0002186	Apraxia	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0011446	HP:0100543	Cognitive impairment	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0011446	HP:0002167	Neurological speech impairment	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011446	HP:0010524	Agnosia	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011446	HP:0100543	Cognitive impairment	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0011446	HP:0001249	Intellectual disability	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		77
HP:0011446	HP:0001249	Intellectual disability	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		12
HP:0011446	HP:0002167	Neurological speech impairment	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0011446	HP:0001249	Intellectual disability	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		20
HP:0011446	HP:0002167	Neurological speech impairment	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0011446	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011446	HP:0002167	Neurological speech impairment	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011446	HP:0002463	Language impairment	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0011446	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0011446	HP:0001249	Intellectual disability	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011446	HP:0002167	Neurological speech impairment	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0011446	HP:0001249	Intellectual disability	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0011446	HP:0001249	Intellectual disability	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011446	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		158
HP:0011446	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0011446	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0011446	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011446	HP:0001249	Intellectual disability	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0011446	HP:0001249	Intellectual disability	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011446	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011446	HP:0002167	Neurological speech impairment	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011446	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent		55
HP:0011446	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		55
HP:0011446	HP:0001249	Intellectual disability	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011446	HP:0100543	Cognitive impairment	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0011446	HP:0002167	Neurological speech impairment	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0011446	HP:0002463	Language impairment	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0011446	HP:0002167	Neurological speech impairment	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0011446	HP:0002463	Language impairment	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0011446	HP:0002167	Neurological speech impairment	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0011446	HP:0002167	Neurological speech impairment	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011446	HP:0002463	Language impairment	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0011446	HP:0002167	Neurological speech impairment	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011446	HP:0002463	Language impairment	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0011446	HP:0001249	Intellectual disability	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	HP:0040283 - Occasional		18
HP:0011446	HP:0002167	Neurological speech impairment	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0011446	HP:0002463	Language impairment	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0011446	HP:0001249	Intellectual disability	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011446	HP:0002167	Neurological speech impairment	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011446	HP:0002463	Language impairment	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0011446	HP:0002167	Neurological speech impairment	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0011446	HP:0002463	Language impairment	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0011446	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0011446	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent		92
HP:0011446	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0011446	HP:0001249	Intellectual disability	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0011446	HP:0001249	Intellectual disability	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0011446	HP:0001249	Intellectual disability	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0011446	HP:0001249	Intellectual disability	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0011446	HP:0001249	Intellectual disability	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0011446	HP:0001249	Intellectual disability	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		209
HP:0011446	HP:0001249	Intellectual disability	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	HP:0040283 - Occasional		209
HP:0011446	HP:0001249	Intellectual disability	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		137
HP:0011446	HP:0001249	Intellectual disability	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	HP:0040283 - Occasional		137
HP:0011446	HP:0001249	Intellectual disability	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011446	HP:0002167	Neurological speech impairment	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011446	HP:0002463	Language impairment	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011446	HP:0002167	Neurological speech impairment	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0011446	HP:0002186	Apraxia	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0011446	HP:0002463	Language impairment	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0011446	HP:0001249	Intellectual disability	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	HP:0002167	Neurological speech impairment	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	HP:0002463	Language impairment	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	HP:0001249	Intellectual disability	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		96
HP:0011446	HP:0001249	Intellectual disability	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0011446	HP:0002167	Neurological speech impairment	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011446	HP:0001249	Intellectual disability	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0011446	HP:0002167	Neurological speech impairment	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0011446	HP:0002463	Language impairment	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0011446	HP:0001249	Intellectual disability	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011446	HP:0002463	Language impairment	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0002167	Neurological speech impairment	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0001249	Intellectual disability	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0011446	HP:0001249	Intellectual disability	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011446	HP:0001249	Intellectual disability	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0011446	HP:0002167	Neurological speech impairment	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011446	HP:0002463	Language impairment	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0011446	HP:0002186	Apraxia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0011446	HP:0100543	Cognitive impairment	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0011446	HP:0002167	Neurological speech impairment	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0011446	HP:0100543	Cognitive impairment	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0011446	HP:0001249	Intellectual disability	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0011446	HP:0002167	Neurological speech impairment	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0011446	HP:0100543	Cognitive impairment	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0011446	HP:0001249	Intellectual disability	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011446	HP:0001249	Intellectual disability	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0011446	HP:0001249	Intellectual disability	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	.
HP:0011446	HP:0002167	Neurological speech impairment	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0100543	Cognitive impairment	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011446	HP:0010524	Agnosia	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0001249	Intellectual disability	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0011446	HP:0001249	Intellectual disability	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0011446	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0011446	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0011446	HP:0001249	Intellectual disability	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0011446	HP:0001249	Intellectual disability	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0011446	HP:0001249	Intellectual disability	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0011446	HP:0001249	Intellectual disability	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0011446	HP:0001249	Intellectual disability	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011446	HP:0001249	Intellectual disability	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0011446	HP:0001249	Intellectual disability	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0011446	HP:0001249	Intellectual disability	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0011446	HP:0002167	Neurological speech impairment	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011446	HP:0002463	Language impairment	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011446	HP:0001249	Intellectual disability	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0011446	HP:0001249	Intellectual disability	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0011446	HP:0001249	Intellectual disability	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0011446	HP:0001249	Intellectual disability	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0011446	HP:0002167	Neurological speech impairment	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0011446	HP:0100543	Cognitive impairment	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0011446	HP:0002167	Neurological speech impairment	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0011446	HP:0002463	Language impairment	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0011446	HP:0002167	Neurological speech impairment	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0011446	HP:0002463	Language impairment	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0011446	HP:0100543	Cognitive impairment	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0011446	HP:0100543	Cognitive impairment	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011446	HP:0002167	Neurological speech impairment	1	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45			2
HP:0011446	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0011446	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0011446	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0011446	HP:0001249	Intellectual disability	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0011446	HP:0002463	Language impairment	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent		1361
HP:0011446	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0011446	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0011446	HP:0001249	Intellectual disability	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011446	HP:0001249	Intellectual disability	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0011446	HP:0002463	Language impairment	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011446	HP:0002463	Language impairment	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0011446	HP:0001249	Intellectual disability	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011446	HP:0001249	Intellectual disability	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.		8
HP:0011446	HP:0002167	Neurological speech impairment	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0011446	HP:0100543	Cognitive impairment	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0011446	HP:0001249	Intellectual disability	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011446	HP:0002167	Neurological speech impairment	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011446	HP:0002463	Language impairment	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0011446	HP:0001249	Intellectual disability	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011446	HP:0002167	Neurological speech impairment	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011446	HP:0002463	Language impairment	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011446	HP:0001249	Intellectual disability	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0011446	HP:0002167	Neurological speech impairment	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0011446	HP:0002463	Language impairment	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011446	HP:0100543	Cognitive impairment	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0011446	HP:0002463	Language impairment	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0100543	Cognitive impairment	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0002463	Language impairment	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0100543	Cognitive impairment	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002463	Language impairment	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0011446	HP:0001249	Intellectual disability	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0011446	HP:0100543	Cognitive impairment	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0002186	Apraxia	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0002463	Language impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0002186	Apraxia	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0002463	Language impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0002186	Apraxia	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0002463	Language impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0002186	Apraxia	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0002463	Language impairment	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0001249	Intellectual disability	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002167	Neurological speech impairment	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011446	HP:0002463	Language impairment	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0002186	Apraxia	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0002463	Language impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011446	HP:0002463	Language impairment	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional		172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.		172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0002186	Apraxia	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0002463	Language impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0001249	Intellectual disability	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0011446	HP:0002167	Neurological speech impairment	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011446	HP:0002463	Language impairment	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	HP:0040283 - Occasional		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:609579	Familial scaphocephaly syndrome, Mcgillivray type	.		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type			175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	HP:0040283 - Occasional		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0011446	HP:0100543	Cognitive impairment	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0011446	HP:0001249	Intellectual disability	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0011446	HP:0001249	Intellectual disability	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011446	HP:0001249	Intellectual disability	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0011446	HP:0002167	Neurological speech impairment	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0011446	HP:0002167	Neurological speech impairment	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011446	HP:0002463	Language impairment	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040282 - Frequent		111
HP:0011446	HP:0002167	Neurological speech impairment	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0002463	Language impairment	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital			111
HP:0011446	HP:0001249	Intellectual disability	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0011446	HP:0002167	Neurological speech impairment	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0011446	HP:0100543	Cognitive impairment	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011446	HP:0002463	Language impairment	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0011446	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0011446	HP:0002167	Neurological speech impairment	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0011446	HP:0002463	Language impairment	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0011446	HP:0002167	Neurological speech impairment	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0011446	HP:0100543	Cognitive impairment	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011446	HP:0002463	Language impairment	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0011446	HP:0001249	Intellectual disability	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0002167	Neurological speech impairment	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0002463	Language impairment	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0002167	Neurological speech impairment	1	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis	HP:0040283 - Occasional		63
HP:0011446	HP:0001249	Intellectual disability	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0011446	HP:0001249	Intellectual disability	1	FLI1 CL E G H	2313	3749	ORPHA:851	Paris-Trousseau thrombocytopenia	HP:0040282 - Frequent		8
HP:0011446	HP:0001249	Intellectual disability	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011446	HP:0100543	Cognitive impairment	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent		493
HP:0011446	HP:0002167	Neurological speech impairment	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011446	HP:0002463	Language impairment	1	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I			493
HP:0011446	HP:0001249	Intellectual disability	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0011446	HP:0001249	Intellectual disability	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0011446	HP:0001249	Intellectual disability	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040283 - Occasional		233
HP:0011446	HP:0002167	Neurological speech impairment	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0011446	HP:0002167	Neurological speech impairment	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0011446	HP:0002463	Language impairment	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0011446	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0011446	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0011446	HP:0002167	Neurological speech impairment	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent		30
HP:0011446	HP:0002167	Neurological speech impairment	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0100543	Cognitive impairment	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0002167	Neurological speech impairment	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0011446	HP:0100543	Cognitive impairment	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0011446	HP:0002463	Language impairment	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0011446	HP:0001249	Intellectual disability	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome			30
HP:0011446	HP:0002167	Neurological speech impairment	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011446	HP:0002463	Language impairment	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011446	HP:0001249	Intellectual disability	1	FOLR1 CL E G H	2348	3791	OMIM:613068	Neurodegeneration due to cerebral folate transport deficiency	.		47
HP:0011446	HP:0001249	Intellectual disability	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis			9
HP:0011446	HP:0001249	Intellectual disability	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0011446	HP:0002463	Language impairment	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0011446	HP:0001249	Intellectual disability	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0002186	Apraxia	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.		177
HP:0011446	HP:0002463	Language impairment	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0002186	Apraxia	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0002463	Language impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0002186	Apraxia	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0002463	Language impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0002186	Apraxia	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0002463	Language impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0002186	Apraxia	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0002463	Language impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0001249	Intellectual disability	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011446	HP:0002463	Language impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011446	HP:0001249	Intellectual disability	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0011446	HP:0001249	Intellectual disability	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		33
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0001249	Intellectual disability	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011446	HP:0002186	Apraxia	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011446	HP:0002463	Language impairment	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011446	HP:0002186	Apraxia	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011446	HP:0002463	Language impairment	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040281 - Very frequent		143
HP:0011446	HP:0002186	Apraxia	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011446	HP:0002463	Language impairment	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech			143
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0011446	HP:0002186	Apraxia	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0011446	HP:0002463	Language impairment	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0011446	HP:0001249	Intellectual disability	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0011446	HP:0002167	Neurological speech impairment	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0011446	HP:0002463	Language impairment	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0011446	HP:0002167	Neurological speech impairment	1	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0011446	HP:0002463	Language impairment	1	FRA16E CL E G H	2464	3861	OMIM:136570	Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included
HP:0011446	HP:0001249	Intellectual disability	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0011446	HP:0001249	Intellectual disability	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0011446	HP:0001249	Intellectual disability	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011446	HP:0002463	Language impairment	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011446	HP:0002463	Language impairment	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0011446	HP:0001249	Intellectual disability	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011446	HP:0002167	Neurological speech impairment	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011446	HP:0002463	Language impairment	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0011446	HP:0002186	Apraxia	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0011446	HP:0100543	Cognitive impairment	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		4
HP:0011446	HP:0001249	Intellectual disability	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0011446	HP:0002463	Language impairment	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0011446	HP:0001249	Intellectual disability	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0011446	HP:0001249	Intellectual disability	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0011446	HP:0002167	Neurological speech impairment	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0011446	HP:0002463	Language impairment	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0011446	HP:0001249	Intellectual disability	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.		65
HP:0011446	HP:0002167	Neurological speech impairment	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0011446	HP:0100543	Cognitive impairment	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0011446	HP:0031908	Micrographia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0002167	Neurological speech impairment	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0011446	HP:0100543	Cognitive impairment	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040281 - Very frequent		33
HP:0011446	HP:0001249	Intellectual disability	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0002167	Neurological speech impairment	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0002463	Language impairment	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0001249	Intellectual disability	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0011446	HP:0001249	Intellectual disability	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0011446	HP:0002167	Neurological speech impairment	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0011446	HP:0002186	Apraxia	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0011446	HP:0100543	Cognitive impairment	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0011446	HP:0002167	Neurological speech impairment	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0011446	HP:0100543	Cognitive impairment	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0011446	HP:0001249	Intellectual disability	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0011446	HP:0002167	Neurological speech impairment	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0011446	HP:0002167	Neurological speech impairment	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0011446	HP:0002167	Neurological speech impairment	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0011446	HP:0001249	Intellectual disability	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0011446	HP:0001249	Intellectual disability	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0002167	Neurological speech impairment	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0011446	HP:0002186	Apraxia	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0011446	HP:0002463	Language impairment	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0100543	Cognitive impairment	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0002463	Language impairment	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0011446	HP:0001249	Intellectual disability	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0011446	HP:0100543	Cognitive impairment	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		134
HP:0011446	HP:0001249	Intellectual disability	1	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.		134
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0011446	HP:0100543	Cognitive impairment	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0011446	HP:0002463	Language impairment	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0011446	HP:0001249	Intellectual disability	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0011446	HP:0001249	Intellectual disability	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0011446	HP:0002167	Neurological speech impairment	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0011446	HP:0002463	Language impairment	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0011446	HP:0100543	Cognitive impairment	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0011446	HP:0002463	Language impairment	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0011446	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0011446	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.		57
HP:0011446	HP:0001249	Intellectual disability	1	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0100543	Cognitive impairment	1	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0002167	Neurological speech impairment	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0002463	Language impairment	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011446	HP:0100543	Cognitive impairment	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		10
HP:0011446	HP:0001249	Intellectual disability	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0011446	HP:0100543	Cognitive impairment	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		139
HP:0011446	HP:0002167	Neurological speech impairment	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0011446	HP:0002463	Language impairment	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0011446	HP:0100543	Cognitive impairment	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		139
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0011446	HP:0100543	Cognitive impairment	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0011446	HP:0002463	Language impairment	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0011446	HP:0001249	Intellectual disability	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0011446	HP:0001249	Intellectual disability	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011446	HP:0002167	Neurological speech impairment	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0011446	HP:0100543	Cognitive impairment	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0011446	HP:0100543	Cognitive impairment	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0011446	HP:0100543	Cognitive impairment	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0011446	HP:0002167	Neurological speech impairment	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0011446	HP:0100543	Cognitive impairment	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0011446	HP:0001249	Intellectual disability	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0011446	HP:0002167	Neurological speech impairment	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0011446	HP:0002463	Language impairment	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0011446	HP:0001249	Intellectual disability	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0011446	HP:0002186	Apraxia	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0011446	HP:0100543	Cognitive impairment	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0011446	HP:0001249	Intellectual disability	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011446	HP:0002167	Neurological speech impairment	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011446	HP:0002463	Language impairment	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011446	HP:0001249	Intellectual disability	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0002167	Neurological speech impairment	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0002186	Apraxia	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0100543	Cognitive impairment	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0002463	Language impairment	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0011446	HP:0001249	Intellectual disability	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0011446	HP:0001249	Intellectual disability	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0011446	HP:0002167	Neurological speech impairment	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0011446	HP:0002463	Language impairment	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0011446	HP:0001249	Intellectual disability	1	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0011446	HP:0002167	Neurological speech impairment	1	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0011446	HP:0001249	Intellectual disability	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0002186	Apraxia	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0002463	Language impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0002186	Apraxia	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0002463	Language impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0002186	Apraxia	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0002463	Language impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0002186	Apraxia	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0002463	Language impairment	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0001249	Intellectual disability	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011446	HP:0002463	Language impairment	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011446	HP:0002463	Language impairment	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0011446	HP:0002167	Neurological speech impairment	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011446	HP:0002463	Language impairment	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011446	HP:0001249	Intellectual disability	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0011446	HP:0002167	Neurological speech impairment	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0011446	HP:0001249	Intellectual disability	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011446	HP:0002167	Neurological speech impairment	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011446	HP:0002167	Neurological speech impairment	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011446	HP:0002463	Language impairment	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0011446	HP:0001249	Intellectual disability	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0011446	HP:0002167	Neurological speech impairment	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0011446	HP:0002463	Language impairment	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011446	HP:0002186	Apraxia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0011446	HP:0002167	Neurological speech impairment	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0011446	HP:0001249	Intellectual disability	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002186	Apraxia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0011446	HP:0002167	Neurological speech impairment	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0100543	Cognitive impairment	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0031908	Micrographia	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0001249	Intellectual disability	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0011446	HP:0002167	Neurological speech impairment	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0011446	HP:0002167	Neurological speech impairment	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0011446	HP:0100543	Cognitive impairment	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040282 - Frequent		30
HP:0011446	HP:0001249	Intellectual disability	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0011446	HP:0002167	Neurological speech impairment	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0011446	HP:0100543	Cognitive impairment	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0011446	HP:0001249	Intellectual disability	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent		86
HP:0011446	HP:0100543	Cognitive impairment	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0011446	HP:0100543	Cognitive impairment	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.		86
HP:0011446	HP:0002167	Neurological speech impairment	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011446	HP:0002167	Neurological speech impairment	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011446	HP:0002463	Language impairment	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011446	HP:0002167	Neurological speech impairment	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011446	HP:0100543	Cognitive impairment	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011446	HP:0002167	Neurological speech impairment	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0011446	HP:0001249	Intellectual disability	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0011446	HP:0100543	Cognitive impairment	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0011446	HP:0001249	Intellectual disability	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.		237
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0011446	HP:0001249	Intellectual disability	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0011446	HP:0002186	Apraxia	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		237
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0011446	HP:0001249	Intellectual disability	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0011446	HP:0002167	Neurological speech impairment	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0011446	HP:0001249	Intellectual disability	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0011446	HP:0002167	Neurological speech impairment	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0011446	HP:0100543	Cognitive impairment	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0011446	HP:0100543	Cognitive impairment	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0002167	Neurological speech impairment	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent		52
HP:0011446	HP:0100543	Cognitive impairment	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040282 - Frequent		52
HP:0011446	HP:0100543	Cognitive impairment	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		64
HP:0011446	HP:0001249	Intellectual disability	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		64
HP:0011446	HP:0001249	Intellectual disability	1	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0011446	HP:0001249	Intellectual disability	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		59
HP:0011446	HP:0100543	Cognitive impairment	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		59
HP:0011446	HP:0002167	Neurological speech impairment	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0011446	HP:0002463	Language impairment	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0011446	HP:0002167	Neurological speech impairment	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0011446	HP:0002463	Language impairment	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0011446	HP:0002167	Neurological speech impairment	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0011446	HP:0002167	Neurological speech impairment	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0011446	HP:0002167	Neurological speech impairment	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0011446	HP:0002167	Neurological speech impairment	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0011446	HP:0002463	Language impairment	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0011446	HP:0002167	Neurological speech impairment	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0011446	HP:0002463	Language impairment	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0011446	HP:0002167	Neurological speech impairment	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0011446	HP:0001249	Intellectual disability	1	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA	.
HP:0011446	HP:0001249	Intellectual disability	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional		98
HP:0011446	HP:0100543	Cognitive impairment	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0011446	HP:0002167	Neurological speech impairment	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		68
HP:0011446	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011446	HP:0001249	Intellectual disability	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0011446	HP:0002167	Neurological speech impairment	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0011446	HP:0002167	Neurological speech impairment	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0011446	HP:0001249	Intellectual disability	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0011446	HP:0002167	Neurological speech impairment	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011446	HP:0002463	Language impairment	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0011446	HP:0001249	Intellectual disability	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0011446	HP:0002167	Neurological speech impairment	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011446	HP:0002463	Language impairment	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0011446	HP:0002167	Neurological speech impairment	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0011446	HP:0002167	Neurological speech impairment	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0011446	HP:0002463	Language impairment	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0011446	HP:0002167	Neurological speech impairment	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0011446	HP:0100543	Cognitive impairment	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040282 - Frequent		199
HP:0011446	HP:0001249	Intellectual disability	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		74
HP:0011446	HP:0001249	Intellectual disability	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		12
HP:0011446	HP:0002167	Neurological speech impairment	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0011446	HP:0002167	Neurological speech impairment	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0011446	HP:0100543	Cognitive impairment	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0011446	HP:0002167	Neurological speech impairment	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0011446	HP:0100543	Cognitive impairment	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.		37
HP:0011446	HP:0001249	Intellectual disability	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0011446	HP:0100543	Cognitive impairment	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent		291
HP:0011446	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0011446	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0011446	HP:0100543	Cognitive impairment	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011446	HP:0001249	Intellectual disability	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0011446	HP:0001249	Intellectual disability	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0011446	HP:0002167	Neurological speech impairment	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0011446	HP:0001249	Intellectual disability	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002167	Neurological speech impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0002186	Apraxia	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0002463	Language impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002167	Neurological speech impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0002186	Apraxia	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0002463	Language impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002167	Neurological speech impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0002186	Apraxia	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0002463	Language impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002167	Neurological speech impairment	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0002186	Apraxia	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0002463	Language impairment	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0001249	Intellectual disability	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002167	Neurological speech impairment	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011446	HP:0002463	Language impairment	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011446	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome			270
HP:0011446	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0011446	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011446	HP:0001249	Intellectual disability	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0011446	HP:0001249	Intellectual disability	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		63
HP:0011446	HP:0001249	Intellectual disability	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011446	HP:0002167	Neurological speech impairment	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011446	HP:0002463	Language impairment	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011446	HP:0001249	Intellectual disability	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		46
HP:0011446	HP:0001249	Intellectual disability	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0011446	HP:0002167	Neurological speech impairment	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0011446	HP:0002167	Neurological speech impairment	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0011446	HP:0002167	Neurological speech impairment	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0011446	HP:0002463	Language impairment	1	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0011446	HP:0001249	Intellectual disability	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.		56
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0011446	HP:0001249	Intellectual disability	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0011446	HP:0002167	Neurological speech impairment	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0100543	Cognitive impairment	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0031908	Micrographia	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0001249	Intellectual disability	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0011446	HP:0001249	Intellectual disability	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0011446	HP:0002167	Neurological speech impairment	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0011446	HP:0002463	Language impairment	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0011446	HP:0002167	Neurological speech impairment	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0011446	HP:0100543	Cognitive impairment	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent		69
HP:0011446	HP:0002167	Neurological speech impairment	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0011446	HP:0100543	Cognitive impairment	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0011446	HP:0001249	Intellectual disability	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.		3
HP:0011446	HP:0002167	Neurological speech impairment	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0011446	HP:0002463	Language impairment	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0011446	HP:0001249	Intellectual disability	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0011446	HP:0002167	Neurological speech impairment	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011446	HP:0002463	Language impairment	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0011446	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0011446	HP:0002167	Neurological speech impairment	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0011446	HP:0100543	Cognitive impairment	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0011446	HP:0002463	Language impairment	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional		16
HP:0011446	HP:0100543	Cognitive impairment	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0011446	HP:0001249	Intellectual disability	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0002463	Language impairment	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type			13
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25			13
HP:0011446	HP:0001249	Intellectual disability	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		36
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0011446	HP:0002463	Language impairment	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0011446	HP:0001249	Intellectual disability	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0011446	HP:0002463	Language impairment	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0011446	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0011446	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.		7
HP:0011446	HP:0001249	Intellectual disability	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0100543	Cognitive impairment	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0011446	HP:0100543	Cognitive impairment	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0011446	HP:0100543	Cognitive impairment	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0011446	HP:0100543	Cognitive impairment	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0011446	HP:0001249	Intellectual disability	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	HP:0040283 - Occasional		101
HP:0011446	HP:0002167	Neurological speech impairment	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0011446	HP:0100543	Cognitive impairment	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0011446	HP:0002463	Language impairment	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0011446	HP:0002463	Language impairment	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0011446	HP:0002167	Neurological speech impairment	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	HP:0002463	Language impairment	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	HP:0001249	Intellectual disability	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011446	HP:0002167	Neurological speech impairment	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011446	HP:0002463	Language impairment	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011446	HP:0001249	Intellectual disability	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0011446	HP:0002463	Language impairment	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0011446	HP:0002463	Language impairment	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011446	HP:0001249	Intellectual disability	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0002167	Neurological speech impairment	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0100543	Cognitive impairment	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0002463	Language impairment	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0001249	Intellectual disability	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0011446	HP:0001249	Intellectual disability	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0011446	HP:0002167	Neurological speech impairment	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011446	HP:0100543	Cognitive impairment	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0011446	HP:0002463	Language impairment	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011446	HP:0001249	Intellectual disability	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0011446	HP:0001249	Intellectual disability	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011446	HP:0002167	Neurological speech impairment	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011446	HP:0002463	Language impairment	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011446	HP:0001249	Intellectual disability	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0011446	HP:0001249	Intellectual disability	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0011446	HP:0002167	Neurological speech impairment	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0011446	HP:0002463	Language impairment	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0011446	HP:0002167	Neurological speech impairment	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0011446	HP:0100543	Cognitive impairment	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0011446	HP:0001249	Intellectual disability	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0002167	Neurological speech impairment	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0002463	Language impairment	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0001249	Intellectual disability	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0011446	HP:0002167	Neurological speech impairment	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0002167	Neurological speech impairment	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0002186	Apraxia	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0002463	Language impairment	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0001249	Intellectual disability	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0011446	HP:0002186	Apraxia	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0011446	HP:0002463	Language impairment	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0011446	HP:0001249	Intellectual disability	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0011446	HP:0002167	Neurological speech impairment	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0011446	HP:0002167	Neurological speech impairment	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011446	HP:0002463	Language impairment	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011446	HP:0001249	Intellectual disability	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0011446	HP:0100543	Cognitive impairment	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011446	HP:0002463	Language impairment	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011446	HP:0001249	Intellectual disability	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional		99
HP:0011446	HP:0001249	Intellectual disability	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		18
HP:0011446	HP:0001249	Intellectual disability	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0011446	HP:0001249	Intellectual disability	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0011446	HP:0001249	Intellectual disability	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0011446	HP:0001249	Intellectual disability	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0011446	HP:0002463	Language impairment	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011446	HP:0002463	Language impairment	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011446	HP:0002463	Language impairment	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011446	HP:0002167	Neurological speech impairment	1	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula			12
HP:0011446	HP:0002167	Neurological speech impairment	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011446	HP:0002463	Language impairment	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011446	HP:0001249	Intellectual disability	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0001249	Intellectual disability	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	HP:0002463	Language impairment	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0002463	Language impairment	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0011446	HP:0002463	Language impairment	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0011446	HP:0001249	Intellectual disability	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0011446	HP:0001249	Intellectual disability	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0011446	HP:0002463	Language impairment	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0011446	HP:0001249	Intellectual disability	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0011446	HP:0002463	Language impairment	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0011446	HP:0002167	Neurological speech impairment	1	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0011446	HP:0100543	Cognitive impairment	1	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0011446	HP:0001249	Intellectual disability	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	HP:0002167	Neurological speech impairment	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	HP:0002186	Apraxia	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	HP:0002463	Language impairment	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	HP:0001249	Intellectual disability	1	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.		32
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0011446	HP:0001249	Intellectual disability	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		108
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0011446	HP:0002463	Language impairment	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0011446	HP:0002463	Language impairment	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0011446	HP:0002186	Apraxia	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0011446	HP:0100543	Cognitive impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		434
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0002186	Apraxia	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0002463	Language impairment	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0011446	HP:0002186	Apraxia	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0011446	HP:0100543	Cognitive impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0011446	HP:0002463	Language impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0011446	HP:0001249	Intellectual disability	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		434
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0011446	HP:0002186	Apraxia	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0011446	HP:0002463	Language impairment	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0011446	HP:0001249	Intellectual disability	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0011446	HP:0002167	Neurological speech impairment	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0011446	HP:0002463	Language impairment	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0011446	HP:0002463	Language impairment	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0100543	Cognitive impairment	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0002463	Language impairment	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0001249	Intellectual disability	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent		8
HP:0011446	HP:0002463	Language impairment	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0011446	HP:0002167	Neurological speech impairment	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0011446	HP:0002463	Language impairment	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0011446	HP:0001249	Intellectual disability	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0002167	Neurological speech impairment	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0002463	Language impairment	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0001249	Intellectual disability	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0011446	HP:0100543	Cognitive impairment	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0011446	HP:0100543	Cognitive impairment	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11			126
HP:0011446	HP:0002167	Neurological speech impairment	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0002186	Apraxia	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0100543	Cognitive impairment	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0002167	Neurological speech impairment	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0011446	HP:0002186	Apraxia	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		126
HP:0011446	HP:0100543	Cognitive impairment	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0011446	HP:0002463	Language impairment	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0011446	HP:0002167	Neurological speech impairment	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0011446	HP:0100543	Cognitive impairment	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0011446	HP:0010524	Agnosia	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0011446	HP:0002167	Neurological speech impairment	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011446	HP:0100543	Cognitive impairment	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011446	HP:0001249	Intellectual disability	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.		39
HP:0011446	HP:0002167	Neurological speech impairment	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0011446	HP:0002167	Neurological speech impairment	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011446	HP:0002463	Language impairment	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011446	HP:0002167	Neurological speech impairment	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0011446	HP:0001249	Intellectual disability	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0011446	HP:0002167	Neurological speech impairment	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0011446	HP:0001249	Intellectual disability	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.		3
HP:0011446	HP:0001249	Intellectual disability	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0011446	HP:0001249	Intellectual disability	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0011446	HP:0100543	Cognitive impairment	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0011446	HP:0001249	Intellectual disability	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0011446	HP:0001249	Intellectual disability	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		124
HP:0011446	HP:0001249	Intellectual disability	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0011446	HP:0001249	Intellectual disability	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0011446	HP:0001249	Intellectual disability	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0011446	HP:0001249	Intellectual disability	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0011446	HP:0002167	Neurological speech impairment	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0011446	HP:0001249	Intellectual disability	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0011446	HP:0001249	Intellectual disability	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011446	HP:0002463	Language impairment	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011446	HP:0001249	Intellectual disability	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0002167	Neurological speech impairment	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0002186	Apraxia	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0002463	Language impairment	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0001249	Intellectual disability	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011446	HP:0001249	Intellectual disability	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011446	HP:0002167	Neurological speech impairment	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011446	HP:0002463	Language impairment	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011446	HP:0001249	Intellectual disability	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0011446	HP:0002463	Language impairment	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0011446	HP:0001249	Intellectual disability	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.		41
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0011446	HP:0002167	Neurological speech impairment	1	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare		73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0011446	HP:0001249	Intellectual disability	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3			32
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011446	HP:0001249	Intellectual disability	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0011446	HP:0001249	Intellectual disability	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0011446	HP:0001249	Intellectual disability	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24	.		54
HP:0011446	HP:0002167	Neurological speech impairment	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0011446	HP:0002463	Language impairment	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0011446	HP:0001249	Intellectual disability	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0011446	HP:0002167	Neurological speech impairment	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0011446	HP:0002463	Language impairment	1	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0011446	HP:0100543	Cognitive impairment	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		54
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0011446	HP:0100543	Cognitive impairment	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0011446	HP:0002463	Language impairment	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0011446	HP:0001249	Intellectual disability	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0011446	HP:0002167	Neurological speech impairment	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0011446	HP:0002463	Language impairment	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1			1
HP:0011446	HP:0100543	Cognitive impairment	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HCRT CL E G H	3060	4847	ORPHA:83465	Narcolepsy type 2			1
HP:0011446	HP:0001249	Intellectual disability	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0001249	Intellectual disability	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0011446	HP:0002167	Neurological speech impairment	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011446	HP:0002463	Language impairment	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0011446	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0011446	HP:0002167	Neurological speech impairment	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0011446	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0011446	HP:0001249	Intellectual disability	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0011446	HP:0002167	Neurological speech impairment	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0011446	HP:0002167	Neurological speech impairment	1	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011446	HP:0001249	Intellectual disability	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011446	HP:0001249	Intellectual disability	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4			6
HP:0011446	HP:0001249	Intellectual disability	1	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0011446	HP:0001249	Intellectual disability	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0011446	HP:0002167	Neurological speech impairment	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0011446	HP:0100543	Cognitive impairment	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0011446	HP:0002463	Language impairment	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A			82
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011446	HP:0001249	Intellectual disability	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0011446	HP:0002167	Neurological speech impairment	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011446	HP:0002463	Language impairment	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0011446	HP:0001249	Intellectual disability	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	HP:0002167	Neurological speech impairment	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	HP:0002463	Language impairment	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	HP:0001249	Intellectual disability	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0002167	Neurological speech impairment	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0002463	Language impairment	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0002167	Neurological speech impairment	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011446	HP:0002463	Language impairment	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011446	HP:0001249	Intellectual disability	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0011446	HP:0002167	Neurological speech impairment	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0011446	HP:0001249	Intellectual disability	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		21
HP:0011446	HP:0001249	Intellectual disability	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0011446	HP:0002167	Neurological speech impairment	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0011446	HP:0100543	Cognitive impairment	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0011446	HP:0002167	Neurological speech impairment	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0100543	Cognitive impairment	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0002167	Neurological speech impairment	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0011446	HP:0100543	Cognitive impairment	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0011446	HP:0100543	Cognitive impairment	1	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease			38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0011446	HP:0001249	Intellectual disability	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011446	HP:0002167	Neurological speech impairment	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011446	HP:0100543	Cognitive impairment	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011446	HP:0001249	Intellectual disability	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011446	HP:0100543	Cognitive impairment	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011446	HP:0002167	Neurological speech impairment	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011446	HP:0002463	Language impairment	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011446	HP:0002167	Neurological speech impairment	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0011446	HP:0002463	Language impairment	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0011446	HP:0001249	Intellectual disability	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0011446	HP:0001249	Intellectual disability	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0002167	Neurological speech impairment	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0011446	HP:0002167	Neurological speech impairment	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011446	HP:0002463	Language impairment	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011446	HP:0002463	Language impairment	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011446	HP:0100543	Cognitive impairment	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0011446	HP:0100543	Cognitive impairment	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0011446	HP:0002167	Neurological speech impairment	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0011446	HP:0100543	Cognitive impairment	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0011446	HP:0100543	Cognitive impairment	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:83465	Narcolepsy type 2
HP:0011446	HP:0100543	Cognitive impairment	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:83465	Narcolepsy type 2			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011446	HP:0002167	Neurological speech impairment	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0100543	Cognitive impairment	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0001249	Intellectual disability	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011446	HP:0002463	Language impairment	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011446	HP:0002463	Language impairment	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011446	HP:0001249	Intellectual disability	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0011446	HP:0001249	Intellectual disability	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0011446	HP:0002167	Neurological speech impairment	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0011446	HP:0001249	Intellectual disability	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0011446	HP:0002463	Language impairment	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0011446	HP:0100543	Cognitive impairment	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0011446	HP:0001249	Intellectual disability	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0011446	HP:0002167	Neurological speech impairment	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0011446	HP:0002463	Language impairment	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0011446	HP:0100543	Cognitive impairment	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0011446	HP:0002463	Language impairment	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:0011446	HP:0100543	Cognitive impairment	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.		5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0011446	HP:0100543	Cognitive impairment	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0002167	Neurological speech impairment	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0002463	Language impairment	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0001249	Intellectual disability	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011446	HP:0002167	Neurological speech impairment	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011446	HP:0002463	Language impairment	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011446	HP:0001249	Intellectual disability	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0011446	HP:0002167	Neurological speech impairment	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0001249	Intellectual disability	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011446	HP:0002167	Neurological speech impairment	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011446	HP:0002463	Language impairment	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011446	HP:0001249	Intellectual disability	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0011446	HP:0002167	Neurological speech impairment	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0011446	HP:0002463	Language impairment	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0011446	HP:0002167	Neurological speech impairment	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0011446	HP:0002463	Language impairment	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia			21
HP:0011446	HP:0002167	Neurological speech impairment	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0011446	HP:0002463	Language impairment	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0011446	HP:0002167	Neurological speech impairment	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive			4
HP:0011446	HP:0002167	Neurological speech impairment	1	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type			4
HP:0011446	HP:0001249	Intellectual disability	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III			23
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent		76
HP:0011446	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0011446	HP:0001249	Intellectual disability	1	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0011446	HP:0002167	Neurological speech impairment	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0011446	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011446	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0011446	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0011446	HP:0001249	Intellectual disability	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0011446	HP:0001249	Intellectual disability	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011446	HP:0002167	Neurological speech impairment	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011446	HP:0002463	Language impairment	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011446	HP:0002167	Neurological speech impairment	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0011446	HP:0002167	Neurological speech impairment	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0011446	HP:0002463	Language impairment	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0011446	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	ORPHA:85295	HSD10 disease, atypical type	HP:0040281 - Very frequent		19
HP:0011446	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0011446	HP:0002167	Neurological speech impairment	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0011446	HP:0002463	Language impairment	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0011446	HP:0001249	Intellectual disability	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0011446	HP:0002167	Neurological speech impairment	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0011446	HP:0100543	Cognitive impairment	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0011446	HP:0002463	Language impairment	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0011446	HP:0001249	Intellectual disability	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0011446	HP:0002167	Neurological speech impairment	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0011446	HP:0001249	Intellectual disability	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0011446	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0011446	HP:0002167	Neurological speech impairment	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0011446	HP:0002463	Language impairment	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011446	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0011446	HP:0002167	Neurological speech impairment	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011446	HP:0001249	Intellectual disability	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0011446	HP:0100543	Cognitive impairment	1	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA			4
HP:0011446	HP:0002167	Neurological speech impairment	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0002186	Apraxia	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0100543	Cognitive impairment	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0100543	Cognitive impairment	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2			34
HP:0011446	HP:0002167	Neurological speech impairment	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0100543	Cognitive impairment	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0100543	Cognitive impairment	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0011446	HP:0002167	Neurological speech impairment	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0011446	HP:0100543	Cognitive impairment	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0011446	HP:0100543	Cognitive impairment	1	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0011446	HP:0100543	Cognitive impairment	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0011446	HP:0001249	Intellectual disability	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0011446	HP:0002167	Neurological speech impairment	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0011446	HP:0002463	Language impairment	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011446	HP:0002167	Neurological speech impairment	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011446	HP:0002463	Language impairment	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0011446	HP:0001249	Intellectual disability	1	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0011446	HP:0001249	Intellectual disability	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0011446	HP:0002167	Neurological speech impairment	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0011446	HP:0002167	Neurological speech impairment	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0002463	Language impairment	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0011446	HP:0001249	Intellectual disability	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0011446	HP:0002186	Apraxia	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0011446	HP:0002463	Language impairment	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0011446	HP:0001249	Intellectual disability	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0011446	HP:0100543	Cognitive impairment	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0011446	HP:0001249	Intellectual disability	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0011446	HP:0100543	Cognitive impairment	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040284 - Very rare		86
HP:0011446	HP:0100543	Cognitive impairment	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0011446	HP:0001249	Intellectual disability	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0011446	HP:0001249	Intellectual disability	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0011446	HP:0001249	Intellectual disability	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0011446	HP:0100543	Cognitive impairment	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011446	HP:0001249	Intellectual disability	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0011446	HP:0001249	Intellectual disability	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0011446	HP:0002167	Neurological speech impairment	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0011446	HP:0001249	Intellectual disability	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0011446	HP:0002167	Neurological speech impairment	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0011446	HP:0002463	Language impairment	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0011446	HP:0001249	Intellectual disability	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011446	HP:0002167	Neurological speech impairment	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011446	HP:0001249	Intellectual disability	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011446	HP:0100543	Cognitive impairment	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0011446	HP:0002167	Neurological speech impairment	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0011446	HP:0001249	Intellectual disability	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		148
HP:0011446	HP:0001249	Intellectual disability	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0011446	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0002167	Neurological speech impairment	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0002463	Language impairment	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0001249	Intellectual disability	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011446	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:0011446	HP:0002186	Apraxia	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0011446	HP:0001249	Intellectual disability	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.		1
HP:0011446	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0011446	HP:0002167	Neurological speech impairment	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0011446	HP:0002463	Language impairment	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0011446	HP:0001249	Intellectual disability	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0011446	HP:0002186	Apraxia	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0011446	HP:0001249	Intellectual disability	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0011446	HP:0002167	Neurological speech impairment	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011446	HP:0002463	Language impairment	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0011446	HP:0001249	Intellectual disability	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0011446	HP:0002167	Neurological speech impairment	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011446	HP:0002463	Language impairment	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011446	HP:0001249	Intellectual disability	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0011446	HP:0100543	Cognitive impairment	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0011446	HP:0100543	Cognitive impairment	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0011446	HP:0100543	Cognitive impairment	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0100543	Cognitive impairment	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011446	HP:0002167	Neurological speech impairment	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0011446	HP:0002167	Neurological speech impairment	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0011446	HP:0001249	Intellectual disability	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011446	HP:0100543	Cognitive impairment	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0011446	HP:0001249	Intellectual disability	1	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.		1
HP:0011446	HP:0001249	Intellectual disability	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		52
HP:0011446	HP:0001249	Intellectual disability	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0011446	HP:0001249	Intellectual disability	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0011446	HP:0001249	Intellectual disability	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0011446	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0011446	HP:0002186	Apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011446	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0002167	Neurological speech impairment	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0002186	Apraxia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0002463	Language impairment	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011446	HP:0002186	Apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011446	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:0011446	HP:0002186	Apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0011446	HP:0002463	Language impairment	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0011446	HP:0001249	Intellectual disability	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0011446	HP:0002167	Neurological speech impairment	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0011446	HP:0002463	Language impairment	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0011446	HP:0001249	Intellectual disability	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002167	Neurological speech impairment	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0001249	Intellectual disability	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0011446	HP:0001249	Intellectual disability	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0011446	HP:0002186	Apraxia	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		62
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0011446	HP:0001249	Intellectual disability	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0011446	HP:0001249	Intellectual disability	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011446	HP:0002167	Neurological speech impairment	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011446	HP:0002463	Language impairment	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0011446	HP:0002167	Neurological speech impairment	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0011446	HP:0002463	Language impairment	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0011446	HP:0002167	Neurological speech impairment	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011446	HP:0002463	Language impairment	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011446	HP:0001249	Intellectual disability	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0001249	Intellectual disability	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		61
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0011446	HP:0002463	Language impairment	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0011446	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0011446	HP:0002167	Neurological speech impairment	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0011446	HP:0002463	Language impairment	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0011446	HP:0002463	Language impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome			119
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0011446	HP:0002463	Language impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0011446	HP:0001249	Intellectual disability	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0011446	HP:0002167	Neurological speech impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0011446	HP:0002463	Language impairment	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011446	HP:0100543	Cognitive impairment	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011446	HP:0002463	Language impairment	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0011446	HP:0002463	Language impairment	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0011446	HP:0002463	Language impairment	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0011446	HP:0002167	Neurological speech impairment	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0011446	HP:0002463	Language impairment	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0011446	HP:0100543	Cognitive impairment	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011446	HP:0001249	Intellectual disability	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0011446	HP:0002463	Language impairment	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0011446	HP:0100543	Cognitive impairment	1	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1			3
HP:0011446	HP:0100543	Cognitive impairment	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040282 - Frequent		177
HP:0011446	HP:0001249	Intellectual disability	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0011446	HP:0002167	Neurological speech impairment	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0011446	HP:0001249	Intellectual disability	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0002167	Neurological speech impairment	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0002463	Language impairment	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0002167	Neurological speech impairment	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0011446	HP:0002186	Apraxia	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0011446	HP:0100543	Cognitive impairment	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0011446	HP:0002463	Language impairment	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0011446	HP:0001249	Intellectual disability	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0011446	HP:0001249	Intellectual disability	1	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.		130
HP:0011446	HP:0001249	Intellectual disability	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011446	HP:0002167	Neurological speech impairment	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011446	HP:0002463	Language impairment	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011446	HP:0001249	Intellectual disability	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0011446	HP:0002167	Neurological speech impairment	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0011446	HP:0002463	Language impairment	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0011446	HP:0002167	Neurological speech impairment	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0011446	HP:0002167	Neurological speech impairment	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0011446	HP:0100543	Cognitive impairment	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0011446	HP:0001249	Intellectual disability	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0002167	Neurological speech impairment	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0011446	HP:0100543	Cognitive impairment	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0011446	HP:0100543	Cognitive impairment	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0011446	HP:0001249	Intellectual disability	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0011446	HP:0001249	Intellectual disability	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011446	HP:0002167	Neurological speech impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011446	HP:0002186	Apraxia	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011446	HP:0002463	Language impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011446	HP:0001249	Intellectual disability	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0011446	HP:0002167	Neurological speech impairment	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011446	HP:0002463	Language impairment	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011446	HP:0002186	Apraxia	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011446	HP:0002463	Language impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011446	HP:0100543	Cognitive impairment	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0011446	HP:0002167	Neurological speech impairment	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011446	HP:0002463	Language impairment	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	HP:0002167	Neurological speech impairment	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	HP:0002463	Language impairment	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0011446	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0011446	HP:0002167	Neurological speech impairment	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011446	HP:0002463	Language impairment	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0011446	HP:0001249	Intellectual disability	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0011446	HP:0002167	Neurological speech impairment	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011446	HP:0002463	Language impairment	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011446	HP:0001249	Intellectual disability	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		145
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0011446	HP:0002463	Language impairment	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity			145
HP:0011446	HP:0001249	Intellectual disability	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0011446	HP:0002463	Language impairment	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0100543	Cognitive impairment	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0002463	Language impairment	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0011446	HP:0002463	Language impairment	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0011446	HP:0001249	Intellectual disability	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002463	Language impairment	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0011446	HP:0002463	Language impairment	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0011446	HP:0100543	Cognitive impairment	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0011446	HP:0002463	Language impairment	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0011446	HP:0100543	Cognitive impairment	1	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7			6
HP:0011446	HP:0001249	Intellectual disability	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0002463	Language impairment	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0001249	Intellectual disability	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0011446	HP:0100543	Cognitive impairment	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0011446	HP:0001249	Intellectual disability	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0011446	HP:0002167	Neurological speech impairment	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0011446	HP:0100543	Cognitive impairment	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	HP:0040283 - Occasional		35
HP:0011446	HP:0002167	Neurological speech impairment	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome			148
HP:0011446	HP:0001249	Intellectual disability	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011446	HP:0002463	Language impairment	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		13
HP:0011446	HP:0001249	Intellectual disability	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011446	HP:0002186	Apraxia	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0011446	HP:0002463	Language impairment	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		121
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0011446	HP:0002463	Language impairment	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0011446	HP:0002186	Apraxia	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		42
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011446	HP:0002463	Language impairment	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011446	HP:0001249	Intellectual disability	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures			114
HP:0011446	HP:0001249	Intellectual disability	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011446	HP:0002463	Language impairment	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0011446	HP:0002463	Language impairment	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0011446	HP:0001249	Intellectual disability	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0001249	Intellectual disability	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome			730
HP:0011446	HP:0001249	Intellectual disability	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0011446	HP:0001249	Intellectual disability	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.		528
HP:0011446	HP:0001249	Intellectual disability	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040280 - Obligate		528
HP:0011446	HP:0001249	Intellectual disability	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011446	HP:0002463	Language impairment	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011446	HP:0001249	Intellectual disability	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0011446	HP:0100543	Cognitive impairment	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		321
HP:0011446	HP:0001249	Intellectual disability	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	HP:0040283 - Occasional		321
HP:0011446	HP:0002167	Neurological speech impairment	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0011446	HP:0002463	Language impairment	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0011446	HP:0001249	Intellectual disability	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0011446	HP:0002167	Neurological speech impairment	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0011446	HP:0100543	Cognitive impairment	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011446	HP:0002186	Apraxia	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011446	HP:0002463	Language impairment	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011446	HP:0002186	Apraxia	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011446	HP:0002463	Language impairment	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011446	HP:0002463	Language impairment	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011446	HP:0001249	Intellectual disability	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011446	HP:0002463	Language impairment	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011446	HP:0001249	Intellectual disability	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0011446	HP:0002463	Language impairment	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0011446	HP:0001249	Intellectual disability	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011446	HP:0002463	Language impairment	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011446	HP:0002463	Language impairment	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011446	HP:0001249	Intellectual disability	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011446	HP:0002167	Neurological speech impairment	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011446	HP:0001249	Intellectual disability	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011446	HP:0002186	Apraxia	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0011446	HP:0001249	Intellectual disability	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional		4
HP:0011446	HP:0001249	Intellectual disability	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0011446	HP:0002186	Apraxia	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011446	HP:0002167	Neurological speech impairment	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0011446	HP:0002186	Apraxia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0011446	HP:0002463	Language impairment	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0011446	HP:0002186	Apraxia	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0011446	HP:0001249	Intellectual disability	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011446	HP:0002463	Language impairment	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011446	HP:0001249	Intellectual disability	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0011446	HP:0002167	Neurological speech impairment	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0011446	HP:0002463	Language impairment	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0011446	HP:0001249	Intellectual disability	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0011446	HP:0001249	Intellectual disability	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0011446	HP:0001249	Intellectual disability	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011446	HP:0002463	Language impairment	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0011446	HP:0002463	Language impairment	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0011446	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011446	HP:0001249	Intellectual disability	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011446	HP:0001249	Intellectual disability	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0011446	HP:0001249	Intellectual disability	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0011446	HP:0002167	Neurological speech impairment	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0011446	HP:0002463	Language impairment	1	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0011446	HP:0001249	Intellectual disability	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0011446	HP:0100543	Cognitive impairment	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare		93
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0011446	HP:0002463	Language impairment	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0011446	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011446	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome			167
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0011446	HP:0001249	Intellectual disability	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011446	HP:0001249	Intellectual disability	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0011446	HP:0001249	Intellectual disability	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011446	HP:0002167	Neurological speech impairment	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011446	HP:0002463	Language impairment	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011446	HP:0001249	Intellectual disability	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0011446	HP:0001249	Intellectual disability	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0100543	Cognitive impairment	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0100543	Cognitive impairment	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011446	HP:0001249	Intellectual disability	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011446	HP:0001249	Intellectual disability	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0100543	Cognitive impairment	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0002463	Language impairment	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0002463	Language impairment	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011446	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0001249	Intellectual disability	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0100543	Cognitive impairment	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0011446	HP:0002463	Language impairment	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0001249	Intellectual disability	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011446	HP:0002463	Language impairment	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0011446	HP:0002463	Language impairment	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0011446	HP:0001249	Intellectual disability	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0011446	HP:0002463	Language impairment	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011446	HP:0002463	Language impairment	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011446	HP:0001249	Intellectual disability	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0011446	HP:0001249	Intellectual disability	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0011446	HP:0002167	Neurological speech impairment	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011446	HP:0002463	Language impairment	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0011446	HP:0001249	Intellectual disability	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0011446	HP:0002167	Neurological speech impairment	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0011446	HP:0002463	Language impairment	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.		13
HP:0011446	HP:0002167	Neurological speech impairment	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0011446	HP:0002463	Language impairment	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0011446	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011446	HP:0002167	Neurological speech impairment	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011446	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0011446	HP:0002167	Neurological speech impairment	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011446	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0011446	HP:0002167	Neurological speech impairment	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0100543	Cognitive impairment	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011446	HP:0010524	Agnosia	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0002167	Neurological speech impairment	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0011446	HP:0001249	Intellectual disability	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0011446	HP:0100543	Cognitive impairment	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		92
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0011446	HP:0001249	Intellectual disability	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040283 - Occasional		3
HP:0011446	HP:0100543	Cognitive impairment	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040283 - Occasional		65
HP:0011446	HP:0100543	Cognitive impairment	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040283 - Occasional		65
HP:0011446	HP:0001249	Intellectual disability	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040283 - Occasional		10
HP:0011446	HP:0100543	Cognitive impairment	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040283 - Occasional		10
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0011446	HP:0002167	Neurological speech impairment	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0011446	HP:0002463	Language impairment	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0011446	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.		134
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0011446	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0011446	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0011446	HP:0002167	Neurological speech impairment	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0011446	HP:0002167	Neurological speech impairment	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0011446	HP:0002463	Language impairment	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0011446	HP:0100543	Cognitive impairment	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040282 - Frequent		134
HP:0011446	HP:0001249	Intellectual disability	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0011446	HP:0001249	Intellectual disability	1	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0011446	HP:0002167	Neurological speech impairment	1	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0011446	HP:0002167	Neurological speech impairment	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0011446	HP:0100543	Cognitive impairment	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0011446	HP:0002167	Neurological speech impairment	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0011446	HP:0002463	Language impairment	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0011446	HP:0001249	Intellectual disability	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0011446	HP:0002167	Neurological speech impairment	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0011446	HP:0002186	Apraxia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0011446	HP:0100543	Cognitive impairment	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent		35
HP:0011446	HP:0002463	Language impairment	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0011446	HP:0002167	Neurological speech impairment	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0011446	HP:0002186	Apraxia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0011446	HP:0002463	Language impairment	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0011446	HP:0001249	Intellectual disability	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0011446	HP:0001249	Intellectual disability	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0011446	HP:0100543	Cognitive impairment	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0011446	HP:0002167	Neurological speech impairment	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0011446	HP:0100543	Cognitive impairment	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011446	HP:0002463	Language impairment	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0011446	HP:0001249	Intellectual disability	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0011446	HP:0001249	Intellectual disability	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0011446	HP:0100543	Cognitive impairment	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0011446	HP:0001249	Intellectual disability	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0011446	HP:0002167	Neurological speech impairment	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	HP:0002167	Neurological speech impairment	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	HP:0002463	Language impairment	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	HP:0001249	Intellectual disability	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0011446	HP:0001249	Intellectual disability	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		70
HP:0011446	HP:0001249	Intellectual disability	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0011446	HP:0001249	Intellectual disability	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011446	HP:0002167	Neurological speech impairment	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011446	HP:0002463	Language impairment	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011446	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0011446	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0011446	HP:0002167	Neurological speech impairment	1	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features			75
HP:0011446	HP:0001249	Intellectual disability	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0011446	HP:0001249	Intellectual disability	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002463	Language impairment	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.		51
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0011446	HP:0001249	Intellectual disability	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		43
HP:0011446	HP:0100543	Cognitive impairment	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0011446	HP:0001249	Intellectual disability	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		1
HP:0011446	HP:0100543	Cognitive impairment	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0011446	HP:0001249	Intellectual disability	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		88
HP:0011446	HP:0001249	Intellectual disability	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0002167	Neurological speech impairment	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0011446	HP:0002463	Language impairment	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0011446	HP:0001249	Intellectual disability	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0011446	HP:0002167	Neurological speech impairment	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0011446	HP:0002463	Language impairment	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0011446	HP:0001249	Intellectual disability	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	.		25
HP:0011446	HP:0002167	Neurological speech impairment	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0011446	HP:0002463	Language impairment	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0011446	HP:0100543	Cognitive impairment	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011446	HP:0002167	Neurological speech impairment	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0011446	HP:0002167	Neurological speech impairment	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0011446	HP:0002463	Language impairment	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0011446	HP:0001249	Intellectual disability	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0002167	Neurological speech impairment	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0002463	Language impairment	1	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0001249	Intellectual disability	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0011446	HP:0001249	Intellectual disability	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040283 - Occasional		106
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0011446	HP:0002167	Neurological speech impairment	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011446	HP:0002463	Language impairment	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0011446	HP:0001249	Intellectual disability	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	HP:0040283 - Occasional		645
HP:0011446	HP:0002167	Neurological speech impairment	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0011446	HP:0100543	Cognitive impairment	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0011446	HP:0002167	Neurological speech impairment	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	HP:0100543	Cognitive impairment	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	HP:0002167	Neurological speech impairment	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011446	HP:0002463	Language impairment	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011446	HP:0001249	Intellectual disability	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent		11
HP:0011446	HP:0002167	Neurological speech impairment	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0011446	HP:0002463	Language impairment	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0011446	HP:0001249	Intellectual disability	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011446	HP:0002167	Neurological speech impairment	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011446	HP:0002463	Language impairment	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0011446	HP:0002167	Neurological speech impairment	1	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0011446	HP:0002463	Language impairment	1	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0011446	HP:0001249	Intellectual disability	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0011446	HP:0002167	Neurological speech impairment	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0011446	HP:0001249	Intellectual disability	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		62
HP:0011446	HP:0001249	Intellectual disability	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0011446	HP:0002167	Neurological speech impairment	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0011446	HP:0001249	Intellectual disability	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0011446	HP:0001249	Intellectual disability	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0011446	HP:0001249	Intellectual disability	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011446	HP:0002167	Neurological speech impairment	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0011446	HP:0002463	Language impairment	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0011446	HP:0002167	Neurological speech impairment	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011446	HP:0100543	Cognitive impairment	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011446	HP:0002167	Neurological speech impairment	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011446	HP:0002463	Language impairment	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0011446	HP:0002167	Neurological speech impairment	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0011446	HP:0002463	Language impairment	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0011446	HP:0002167	Neurological speech impairment	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0001249	Intellectual disability	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	HP:0040283 - Occasional		1
HP:0011446	HP:0100543	Cognitive impairment	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0011446	HP:0100543	Cognitive impairment	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant			221
HP:0011446	HP:0100543	Cognitive impairment	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0011446	HP:0001249	Intellectual disability	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0001249	Intellectual disability	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011446	HP:0002167	Neurological speech impairment	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011446	HP:0002463	Language impairment	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0011446	HP:0002167	Neurological speech impairment	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0011446	HP:0100543	Cognitive impairment	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0011446	HP:0002463	Language impairment	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0011446	HP:0001249	Intellectual disability	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0011446	HP:0002167	Neurological speech impairment	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0011446	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent		239
HP:0011446	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0011446	HP:0100543	Cognitive impairment	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0011446	HP:0001249	Intellectual disability	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011446	HP:0001249	Intellectual disability	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0011446	HP:0001249	Intellectual disability	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0011446	HP:0100543	Cognitive impairment	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0011446	HP:0002167	Neurological speech impairment	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0011446	HP:0001249	Intellectual disability	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011446	HP:0001249	Intellectual disability	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011446	HP:0002167	Neurological speech impairment	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011446	HP:0002463	Language impairment	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011446	HP:0002463	Language impairment	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011446	HP:0002463	Language impairment	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011446	HP:0001249	Intellectual disability	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040281 - Very frequent		21
HP:0011446	HP:0001249	Intellectual disability	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0011446	HP:0100543	Cognitive impairment	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011446	HP:0100543	Cognitive impairment	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0011446	HP:0002463	Language impairment	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011446	HP:0002167	Neurological speech impairment	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011446	HP:0002463	Language impairment	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0011446	HP:0002167	Neurological speech impairment	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011446	HP:0002463	Language impairment	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011446	HP:0001249	Intellectual disability	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0011446	HP:0001249	Intellectual disability	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0011446	HP:0001249	Intellectual disability	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040281 - Very frequent		93
HP:0011446	HP:0002167	Neurological speech impairment	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011446	HP:0001249	Intellectual disability	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011446	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011446	HP:0002167	Neurological speech impairment	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0011446	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0011446	HP:0002167	Neurological speech impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0011446	HP:0002463	Language impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0011446	HP:0001249	Intellectual disability	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent		136
HP:0011446	HP:0002167	Neurological speech impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011446	HP:0002463	Language impairment	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0011446	HP:0001249	Intellectual disability	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011446	HP:0002167	Neurological speech impairment	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011446	HP:0002463	Language impairment	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011446	HP:0001249	Intellectual disability	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent		55
HP:0011446	HP:0001249	Intellectual disability	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0011446	HP:0002167	Neurological speech impairment	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0011446	HP:0001249	Intellectual disability	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0011446	HP:0100543	Cognitive impairment	1	MAOA CL E G H	4128	6833	ORPHA:3057	Monoamine oxidase A deficiency	HP:0040281 - Very frequent		22
HP:0011446	HP:0001249	Intellectual disability	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011446	HP:0002167	Neurological speech impairment	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011446	HP:0002463	Language impairment	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011446	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011446	HP:0002167	Neurological speech impairment	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011446	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0011446	HP:0001249	Intellectual disability	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011446	HP:0001249	Intellectual disability	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011446	HP:0002167	Neurological speech impairment	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011446	HP:0001249	Intellectual disability	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0011446	HP:0001249	Intellectual disability	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011446	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:0011446	HP:0002186	Apraxia	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0011446	HP:0002463	Language impairment	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011446	HP:0002463	Language impairment	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011446	HP:0001249	Intellectual disability	1	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		61
HP:0011446	HP:0100543	Cognitive impairment	1	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome			61
HP:0011446	HP:0001249	Intellectual disability	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011446	HP:0002463	Language impairment	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0011446	HP:0002463	Language impairment	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0011446	HP:0031908	Micrographia	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0011446	HP:0002463	Language impairment	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0011446	HP:0002186	Apraxia	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0011446	HP:0002463	Language impairment	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0011446	HP:0002186	Apraxia	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0002186	Apraxia	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0002463	Language impairment	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0002186	Apraxia	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0031908	Micrographia	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0011446	HP:0010524	Agnosia	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0011446	HP:0002167	Neurological speech impairment	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0002186	Apraxia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0100543	Cognitive impairment	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0031908	Micrographia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0001249	Intellectual disability	1	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0011446	HP:0001249	Intellectual disability	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011446	HP:0001249	Intellectual disability	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0011446	HP:0002167	Neurological speech impairment	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0011446	HP:0002167	Neurological speech impairment	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0011446	HP:0100543	Cognitive impairment	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.		25
HP:0011446	HP:0001249	Intellectual disability	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent		21
HP:0011446	HP:0001249	Intellectual disability	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011446	HP:0002186	Apraxia	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0011446	HP:0001249	Intellectual disability	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	HP:0040283 - Occasional		82
HP:0011446	HP:0002167	Neurological speech impairment	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0011446	HP:0100543	Cognitive impairment	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0011446	HP:0002167	Neurological speech impairment	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0011446	HP:0100543	Cognitive impairment	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0011446	HP:0002167	Neurological speech impairment	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011446	HP:0001249	Intellectual disability	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011446	HP:0002167	Neurological speech impairment	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011446	HP:0002463	Language impairment	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0011446	HP:0001249	Intellectual disability	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0011446	HP:0002463	Language impairment	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0011446	HP:0001249	Intellectual disability	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0011446	HP:0002463	Language impairment	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0011446	HP:0001249	Intellectual disability	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011446	HP:0001249	Intellectual disability	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0011446	HP:0001249	Intellectual disability	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0011446	HP:0001249	Intellectual disability	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0011446	HP:0001249	Intellectual disability	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0011446	HP:0002167	Neurological speech impairment	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011446	HP:0002463	Language impairment	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0011446	HP:0002463	Language impairment	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0011446	HP:0001249	Intellectual disability	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0001249	Intellectual disability	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0002167	Neurological speech impairment	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0100543	Cognitive impairment	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0002463	Language impairment	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0001249	Intellectual disability	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0011446	HP:0002167	Neurological speech impairment	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0011446	HP:0002463	Language impairment	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0011446	HP:0001249	Intellectual disability	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0011446	HP:0001249	Intellectual disability	1	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.		155
HP:0011446	HP:0002167	Neurological speech impairment	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011446	HP:0002463	Language impairment	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011446	HP:0002167	Neurological speech impairment	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0011446	HP:0002463	Language impairment	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0011446	HP:0002167	Neurological speech impairment	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011446	HP:0001249	Intellectual disability	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0011446	HP:0002186	Apraxia	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.		950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0011446	HP:0002463	Language impairment	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3			950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	HP:0002463	Language impairment	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0002186	Apraxia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0002463	Language impairment	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0011446	HP:0002186	Apraxia	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0011446	HP:0002186	Apraxia	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0011446	HP:0100543	Cognitive impairment	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0011446	HP:0002463	Language impairment	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0011446	HP:0001249	Intellectual disability	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0011446	HP:0002167	Neurological speech impairment	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0011446	HP:0002167	Neurological speech impairment	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011446	HP:0002167	Neurological speech impairment	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011446	HP:0002463	Language impairment	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011446	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0011446	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0011446	HP:0002167	Neurological speech impairment	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0011446	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0011446	HP:0002167	Neurological speech impairment	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011446	HP:0002463	Language impairment	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011446	HP:0001249	Intellectual disability	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011446	HP:0001249	Intellectual disability	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011446	HP:0002167	Neurological speech impairment	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011446	HP:0002463	Language impairment	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011446	HP:0002167	Neurological speech impairment	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011446	HP:0002186	Apraxia	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011446	HP:0002463	Language impairment	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011446	HP:0002463	Language impairment	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011446	HP:0001249	Intellectual disability	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18	.		25
HP:0011446	HP:0002167	Neurological speech impairment	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0002463	Language impairment	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0001249	Intellectual disability	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011446	HP:0002167	Neurological speech impairment	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011446	HP:0002463	Language impairment	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011446	HP:0001249	Intellectual disability	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011446	HP:0002167	Neurological speech impairment	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011446	HP:0002463	Language impairment	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011446	HP:0001249	Intellectual disability	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011446	HP:0002167	Neurological speech impairment	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011446	HP:0002463	Language impairment	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0011446	HP:0001249	Intellectual disability	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0002167	Neurological speech impairment	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0002463	Language impairment	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0100543	Cognitive impairment	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	HP:0002463	Language impairment	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	HP:0002463	Language impairment	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0002463	Language impairment	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011446	HP:0001249	Intellectual disability	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0001249	Intellectual disability	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002167	Neurological speech impairment	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0011446	HP:0002463	Language impairment	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0011446	HP:0100543	Cognitive impairment	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011446	HP:0100543	Cognitive impairment	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0011446	HP:0002167	Neurological speech impairment	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011446	HP:0002463	Language impairment	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011446	HP:0001249	Intellectual disability	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0011446	HP:0001249	Intellectual disability	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.		13
HP:0011446	HP:0001249	Intellectual disability	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0001249	Intellectual disability	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011446	HP:0002167	Neurological speech impairment	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011446	HP:0002463	Language impairment	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011446	HP:0002167	Neurological speech impairment	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0011446	HP:0002463	Language impairment	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0011446	HP:0002167	Neurological speech impairment	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0011446	HP:0100543	Cognitive impairment	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0011446	HP:0001249	Intellectual disability	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0011446	HP:0001249	Intellectual disability	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0011446	HP:0002463	Language impairment	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0011446	HP:0002167	Neurological speech impairment	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0011446	HP:0100543	Cognitive impairment	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0011446	HP:0002463	Language impairment	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0011446	HP:0001249	Intellectual disability	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0011446	HP:0001249	Intellectual disability	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional		11
HP:0011446	HP:0002167	Neurological speech impairment	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0011446	HP:0001249	Intellectual disability	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0011446	HP:0001249	Intellectual disability	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011446	HP:0001249	Intellectual disability	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0011446	HP:0001249	Intellectual disability	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0011446	HP:0100543	Cognitive impairment	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0011446	HP:0002167	Neurological speech impairment	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0011446	HP:0002463	Language impairment	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0011446	HP:0001249	Intellectual disability	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent		57
HP:0011446	HP:0002167	Neurological speech impairment	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011446	HP:0001249	Intellectual disability	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0011446	HP:0002167	Neurological speech impairment	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0011446	HP:0001249	Intellectual disability	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0011446	HP:0002463	Language impairment	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0011446	HP:0001249	Intellectual disability	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0011446	HP:0002167	Neurological speech impairment	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0011446	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0011446	HP:0001249	Intellectual disability	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0011446	HP:0002167	Neurological speech impairment	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011446	HP:0002463	Language impairment	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011446	HP:0002167	Neurological speech impairment	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0011446	HP:0002167	Neurological speech impairment	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0011446	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0011446	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0011446	HP:0002186	Apraxia	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011446	HP:0001249	Intellectual disability	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0002167	Neurological speech impairment	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0002186	Apraxia	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0002463	Language impairment	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	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:0011446	HP:0002186	Apraxia	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0011446	HP:0002167	Neurological speech impairment	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011446	HP:0002463	Language impairment	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011446	HP:0001249	Intellectual disability	1	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			112
HP:0011446	HP:0002167	Neurological speech impairment	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011446	HP:0100543	Cognitive impairment	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011446	HP:0010524	Agnosia	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011446	HP:0002167	Neurological speech impairment	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011446	HP:0100543	Cognitive impairment	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011446	HP:0010524	Agnosia	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011446	HP:0002167	Neurological speech impairment	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0011446	HP:0100543	Cognitive impairment	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0011446	HP:0001249	Intellectual disability	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011446	HP:0100543	Cognitive impairment	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD			50
HP:0011446	HP:0001249	Intellectual disability	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0011446	HP:0002167	Neurological speech impairment	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0011446	HP:0002167	Neurological speech impairment	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0001249	Intellectual disability	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0011446	HP:0001249	Intellectual disability	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011446	HP:0001249	Intellectual disability	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011446	HP:0002167	Neurological speech impairment	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011446	HP:0002463	Language impairment	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011446	HP:0001249	Intellectual disability	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0011446	HP:0100543	Cognitive impairment	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0011446	HP:0002463	Language impairment	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0011446	HP:0002167	Neurological speech impairment	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0011446	HP:0002463	Language impairment	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0011446	HP:0001249	Intellectual disability	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0011446	HP:0002167	Neurological speech impairment	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0011446	HP:0001249	Intellectual disability	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0011446	HP:0100543	Cognitive impairment	1	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease			11
HP:0011446	HP:0001249	Intellectual disability	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0011446	HP:0002167	Neurological speech impairment	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011446	HP:0002463	Language impairment	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011446	HP:0002167	Neurological speech impairment	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0011446	HP:0002186	Apraxia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0011446	HP:0002463	Language impairment	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0011446	HP:0002167	Neurological speech impairment	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0011446	HP:0002186	Apraxia	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0011446	HP:0002167	Neurological speech impairment	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0011446	HP:0002463	Language impairment	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0011446	HP:0002167	Neurological speech impairment	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0011446	HP:0002463	Language impairment	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0011446	HP:0001249	Intellectual disability	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0011446	HP:0002167	Neurological speech impairment	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0011446	HP:0002167	Neurological speech impairment	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0011446	HP:0002463	Language impairment	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0011446	HP:0002167	Neurological speech impairment	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011446	HP:0100543	Cognitive impairment	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011446	HP:0010524	Agnosia	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011446	HP:0002167	Neurological speech impairment	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011446	HP:0100543	Cognitive impairment	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011446	HP:0010524	Agnosia	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011446	HP:0001249	Intellectual disability	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0002167	Neurological speech impairment	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0002463	Language impairment	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0001249	Intellectual disability	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0011446	HP:0001249	Intellectual disability	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011446	HP:0002463	Language impairment	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011446	HP:0001249	Intellectual disability	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011446	HP:0002167	Neurological speech impairment	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011446	HP:0002463	Language impairment	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0011446	HP:0002167	Neurological speech impairment	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0011446	HP:0002463	Language impairment	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0011446	HP:0001249	Intellectual disability	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0011446	HP:0002167	Neurological speech impairment	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0011446	HP:0100543	Cognitive impairment	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0011446	HP:0002463	Language impairment	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0011446	HP:0001249	Intellectual disability	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011446	HP:0002167	Neurological speech impairment	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0011446	HP:0001249	Intellectual disability	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0011446	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:0011446	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:0011446	HP:0100543	Cognitive impairment	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0011446	HP:0100543	Cognitive impairment	1	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA			183
HP:0011446	HP:0002167	Neurological speech impairment	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0011446	HP:0002167	Neurological speech impairment	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0011446	HP:0100543	Cognitive impairment	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0011446	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.		68
HP:0011446	HP:0100543	Cognitive impairment	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.		68
HP:0011446	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0011446	HP:0001249	Intellectual disability	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011446	HP:0002167	Neurological speech impairment	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0011446	HP:0002167	Neurological speech impairment	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0011446	HP:0002463	Language impairment	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0011446	HP:0001249	Intellectual disability	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0011446	HP:0001249	Intellectual disability	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0011446	HP:0100543	Cognitive impairment	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0011446	HP:0100543	Cognitive impairment	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0011446	HP:0001249	Intellectual disability	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0011446	HP:0001249	Intellectual disability	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0011446	HP:0001249	Intellectual disability	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0011446	HP:0002167	Neurological speech impairment	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0011446	HP:0001249	Intellectual disability	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0011446	HP:0002167	Neurological speech impairment	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0011446	HP:0001249	Intellectual disability	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0011446	HP:0002167	Neurological speech impairment	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0011446	HP:0001249	Intellectual disability	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0011446	HP:0001249	Intellectual disability	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040284 - Very rare		35
HP:0011446	HP:0100543	Cognitive impairment	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0011446	HP:0100543	Cognitive impairment	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0011446	HP:0002167	Neurological speech impairment	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040282 - Frequent		35
HP:0011446	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.		35
HP:0011446	HP:0001249	Intellectual disability	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent		35
HP:0011446	HP:0001249	Intellectual disability	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0011446	HP:0002167	Neurological speech impairment	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0011446	HP:0002186	Apraxia	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0011446	HP:0002463	Language impairment	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0011446	HP:0001249	Intellectual disability	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0011446	HP:0002167	Neurological speech impairment	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0011446	HP:0100543	Cognitive impairment	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0011446	HP:0002167	Neurological speech impairment	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0011446	HP:0001249	Intellectual disability	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	HP:0040284 - Very rare		2
HP:0011446	HP:0002167	Neurological speech impairment	1	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0011446	HP:0002463	Language impairment	1	MYRF CL E G H	745	1181	OMIM:618113	Encephalitis/encephalopathy, MILD, with reversible myelin vacuolization			2
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0011446	HP:0002167	Neurological speech impairment	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0011446	HP:0002463	Language impairment	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0011446	HP:0001249	Intellectual disability	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0011446	HP:0002167	Neurological speech impairment	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0011446	HP:0001249	Intellectual disability	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011446	HP:0001249	Intellectual disability	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0011446	HP:0002463	Language impairment	1	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0011446	HP:0001249	Intellectual disability	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011446	HP:0002167	Neurological speech impairment	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0011446	HP:0002463	Language impairment	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0011446	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0011446	HP:0100543	Cognitive impairment	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0011446	HP:0001249	Intellectual disability	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0011446	HP:0001249	Intellectual disability	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011446	HP:0100543	Cognitive impairment	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011446	HP:0002167	Neurological speech impairment	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0011446	HP:0100543	Cognitive impairment	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0011446	HP:0100543	Cognitive impairment	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0011446	HP:0002167	Neurological speech impairment	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0011446	HP:0002463	Language impairment	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0011446	HP:0002167	Neurological speech impairment	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0011446	HP:0001249	Intellectual disability	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011446	HP:0002167	Neurological speech impairment	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011446	HP:0002463	Language impairment	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011446	HP:0001249	Intellectual disability	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011446	HP:0001249	Intellectual disability	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0011446	HP:0002463	Language impairment	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0011446	HP:0002463	Language impairment	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0011446	HP:0001249	Intellectual disability	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0011446	HP:0002167	Neurological speech impairment	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0011446	HP:0002167	Neurological speech impairment	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011446	HP:0002463	Language impairment	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011446	HP:0002167	Neurological speech impairment	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0011446	HP:0002167	Neurological speech impairment	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0011446	HP:0002463	Language impairment	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0011446	HP:0001249	Intellectual disability	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0011446	HP:0002167	Neurological speech impairment	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011446	HP:0100543	Cognitive impairment	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011446	HP:0002463	Language impairment	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011446	HP:0001249	Intellectual disability	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0011446	HP:0002167	Neurological speech impairment	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0011446	HP:0002463	Language impairment	1	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0011446	HP:0001249	Intellectual disability	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011446	HP:0002463	Language impairment	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0011446	HP:0001249	Intellectual disability	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0011446	HP:0002167	Neurological speech impairment	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0011446	HP:0002463	Language impairment	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0011446	HP:0001249	Intellectual disability	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0002167	Neurological speech impairment	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0002167	Neurological speech impairment	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0002167	Neurological speech impairment	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0011446	HP:0001249	Intellectual disability	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0011446	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0011446	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0011446	HP:0001249	Intellectual disability	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0011446	HP:0100543	Cognitive impairment	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0011446	HP:0001249	Intellectual disability	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0011446	HP:0002167	Neurological speech impairment	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011446	HP:0002463	Language impairment	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0011446	HP:0002463	Language impairment	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011446	HP:0100543	Cognitive impairment	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011446	HP:0002463	Language impairment	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011446	HP:0001249	Intellectual disability	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0011446	HP:0001249	Intellectual disability	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0011446	HP:0001249	Intellectual disability	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0011446	HP:0100543	Cognitive impairment	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0011446	HP:0001249	Intellectual disability	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0011446	HP:0001249	Intellectual disability	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0011446	HP:0001249	Intellectual disability	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011446	HP:0001249	Intellectual disability	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0011446	HP:0001249	Intellectual disability	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0011446	HP:0100543	Cognitive impairment	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0011446	HP:0001249	Intellectual disability	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0011446	HP:0001249	Intellectual disability	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0011446	HP:0001249	Intellectual disability	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0002167	Neurological speech impairment	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0011446	HP:0002167	Neurological speech impairment	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0100543	Cognitive impairment	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002463	Language impairment	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0011446	HP:0002463	Language impairment	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent		4
HP:0011446	HP:0001249	Intellectual disability	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0011446	HP:0002167	Neurological speech impairment	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0011446	HP:0002463	Language impairment	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0011446	HP:0002167	Neurological speech impairment	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0011446	HP:0002167	Neurological speech impairment	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0011446	HP:0100543	Cognitive impairment	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0011446	HP:0002167	Neurological speech impairment	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0011446	HP:0002167	Neurological speech impairment	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0011446	HP:0002463	Language impairment	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0011446	HP:0002167	Neurological speech impairment	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0001249	Intellectual disability	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0011446	HP:0002463	Language impairment	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN			1
HP:0011446	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011446	HP:0002167	Neurological speech impairment	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0011446	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0011446	HP:0001249	Intellectual disability	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent		43
HP:0011446	HP:0002167	Neurological speech impairment	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0011446	HP:0001249	Intellectual disability	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	HP:0002167	Neurological speech impairment	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	HP:0002463	Language impairment	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	HP:0001249	Intellectual disability	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		52
HP:0011446	HP:0002167	Neurological speech impairment	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011446	HP:0002463	Language impairment	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0011446	HP:0002463	Language impairment	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0011446	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011446	HP:0100543	Cognitive impairment	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011446	HP:0002463	Language impairment	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011446	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0011446	HP:0002167	Neurological speech impairment	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011446	HP:0002463	Language impairment	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome			1952
HP:0011446	HP:0002167	Neurological speech impairment	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011446	HP:0001249	Intellectual disability	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011446	HP:0002167	Neurological speech impairment	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011446	HP:0002463	Language impairment	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011446	HP:0002167	Neurological speech impairment	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0011446	HP:0100543	Cognitive impairment	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011446	HP:0002167	Neurological speech impairment	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011446	HP:0100543	Cognitive impairment	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011446	HP:0002167	Neurological speech impairment	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0011446	HP:0001249	Intellectual disability	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0011446	HP:0002167	Neurological speech impairment	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0011446	HP:0002463	Language impairment	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0011446	HP:0001249	Intellectual disability	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0011446	HP:0100543	Cognitive impairment	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0011446	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0011446	HP:0002167	Neurological speech impairment	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0011446	HP:0002463	Language impairment	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0011446	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011446	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0011446	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0011446	HP:0002167	Neurological speech impairment	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011446	HP:0002463	Language impairment	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011446	HP:0001249	Intellectual disability	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0011446	HP:0002167	Neurological speech impairment	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0011446	HP:0002463	Language impairment	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0011446	HP:0001249	Intellectual disability	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0011446	HP:0001249	Intellectual disability	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011446	HP:0001249	Intellectual disability	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0011446	HP:0002186	Apraxia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0011446	HP:0002463	Language impairment	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0011446	HP:0001249	Intellectual disability	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0011446	HP:0002167	Neurological speech impairment	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011446	HP:0100543	Cognitive impairment	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011446	HP:0002186	Apraxia	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0011446	HP:0100543	Cognitive impairment	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0011446	HP:0001249	Intellectual disability	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011446	HP:0001249	Intellectual disability	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	HP:0040283 - Occasional		27
HP:0011446	HP:0001249	Intellectual disability	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0001249	Intellectual disability	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0011446	HP:0001249	Intellectual disability	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type			55
HP:0011446	HP:0001249	Intellectual disability	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0011446	HP:0001249	Intellectual disability	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0011446	HP:0002167	Neurological speech impairment	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011446	HP:0100543	Cognitive impairment	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011446	HP:0002463	Language impairment	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0011446	HP:0001249	Intellectual disability	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011446	HP:0100543	Cognitive impairment	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011446	HP:0002463	Language impairment	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0011446	HP:0100543	Cognitive impairment	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		60
HP:0011446	HP:0001249	Intellectual disability	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0011446	HP:0002167	Neurological speech impairment	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0011446	HP:0001249	Intellectual disability	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011446	HP:0002167	Neurological speech impairment	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011446	HP:0002463	Language impairment	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011446	HP:0001249	Intellectual disability	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis			51
HP:0011446	HP:0001249	Intellectual disability	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0011446	HP:0002167	Neurological speech impairment	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0011446	HP:0002186	Apraxia	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0011446	HP:0002167	Neurological speech impairment	1	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary			51
HP:0011446	HP:0002167	Neurological speech impairment	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0011446	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis			90
HP:0011446	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5			90
HP:0011446	HP:0001249	Intellectual disability	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0011446	HP:0002167	Neurological speech impairment	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0011446	HP:0100543	Cognitive impairment	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0011446	HP:0001249	Intellectual disability	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.		24
HP:0011446	HP:0002167	Neurological speech impairment	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0011446	HP:0002463	Language impairment	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1			24
HP:0011446	HP:0001249	Intellectual disability	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0011446	HP:0002167	Neurological speech impairment	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0011446	HP:0002463	Language impairment	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0011446	HP:0001249	Intellectual disability	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0011446	HP:0002167	Neurological speech impairment	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011446	HP:0002463	Language impairment	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0011446	HP:0001249	Intellectual disability	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		15
HP:0011446	HP:0001249	Intellectual disability	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002167	Neurological speech impairment	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0002186	Apraxia	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0002463	Language impairment	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002167	Neurological speech impairment	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0002186	Apraxia	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0002463	Language impairment	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002167	Neurological speech impairment	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0002186	Apraxia	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0002463	Language impairment	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002167	Neurological speech impairment	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0002186	Apraxia	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0002463	Language impairment	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0001249	Intellectual disability	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002167	Neurological speech impairment	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011446	HP:0002463	Language impairment	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011446	HP:0001249	Intellectual disability	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0002167	Neurological speech impairment	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0002186	Apraxia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0002463	Language impairment	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0001249	Intellectual disability	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0002167	Neurological speech impairment	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0002186	Apraxia	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0002463	Language impairment	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0001249	Intellectual disability	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011446	HP:0002167	Neurological speech impairment	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0011446	HP:0002167	Neurological speech impairment	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0011446	HP:0100543	Cognitive impairment	1	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease			8
HP:0011446	HP:0001249	Intellectual disability	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0100543	Cognitive impairment	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0011446	HP:0100543	Cognitive impairment	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0100543	Cognitive impairment	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0002167	Neurological speech impairment	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0011446	HP:0100543	Cognitive impairment	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent		144
HP:0011446	HP:0002463	Language impairment	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011446	HP:0002463	Language impairment	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011446	HP:0002167	Neurological speech impairment	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011446	HP:0002463	Language impairment	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0011446	HP:0002167	Neurological speech impairment	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0011446	HP:0100543	Cognitive impairment	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0011446	HP:0001249	Intellectual disability	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0011446	HP:0002167	Neurological speech impairment	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0011446	HP:0100543	Cognitive impairment	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0011446	HP:0001249	Intellectual disability	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0011446	HP:0002167	Neurological speech impairment	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0011446	HP:0002186	Apraxia	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0011446	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:0011446	HP:0002186	Apraxia	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0011446	HP:0001249	Intellectual disability	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0011446	HP:0002167	Neurological speech impairment	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci			4
HP:0011446	HP:0100543	Cognitive impairment	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci			7
HP:0011446	HP:0100543	Cognitive impairment	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		7
HP:0011446	HP:0001249	Intellectual disability	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0011446	HP:0001249	Intellectual disability	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0011446	HP:0001249	Intellectual disability	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0011446	HP:0002167	Neurological speech impairment	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0011446	HP:0002463	Language impairment	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0011446	HP:0100543	Cognitive impairment	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011446	HP:0001249	Intellectual disability	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0002167	Neurological speech impairment	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0002463	Language impairment	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0002167	Neurological speech impairment	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0011446	HP:0100543	Cognitive impairment	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0011446	HP:0031908	Micrographia	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0011446	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0011446	HP:0100543	Cognitive impairment	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011446	HP:0002167	Neurological speech impairment	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0011446	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0002167	Neurological speech impairment	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0002463	Language impairment	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0001249	Intellectual disability	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0011446	HP:0001249	Intellectual disability	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011446	HP:0001249	Intellectual disability	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0011446	HP:0001249	Intellectual disability	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		4
HP:0011446	HP:0001249	Intellectual disability	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0011446	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0011446	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011446	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.		544
HP:0011446	HP:0002167	Neurological speech impairment	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0002463	Language impairment	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0001249	Intellectual disability	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0011446	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011446	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011446	HP:0001249	Intellectual disability	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011446	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0011446	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0011446	HP:0002167	Neurological speech impairment	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0011446	HP:0002463	Language impairment	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0011446	HP:0002463	Language impairment	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011446	HP:0001249	Intellectual disability	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0011446	HP:0002167	Neurological speech impairment	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011446	HP:0002463	Language impairment	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011446	HP:0001249	Intellectual disability	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		84
HP:0011446	HP:0001249	Intellectual disability	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011446	HP:0002167	Neurological speech impairment	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011446	HP:0002463	Language impairment	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0011446	HP:0001249	Intellectual disability	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0011446	HP:0001249	Intellectual disability	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0011446	HP:0002186	Apraxia	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0011446	HP:0002463	Language impairment	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0011446	HP:0001249	Intellectual disability	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011446	HP:0001249	Intellectual disability	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	HP:0002167	Neurological speech impairment	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	HP:0002463	Language impairment	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0011446	HP:0100543	Cognitive impairment	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0011446	HP:0002463	Language impairment	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0011446	HP:0001249	Intellectual disability	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.		8
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0011446	HP:0002167	Neurological speech impairment	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0011446	HP:0001249	Intellectual disability	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0002167	Neurological speech impairment	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0002463	Language impairment	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0100543	Cognitive impairment	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0011446	HP:0002167	Neurological speech impairment	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0011446	HP:0002463	Language impairment	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0011446	HP:0002167	Neurological speech impairment	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0011446	HP:0002463	Language impairment	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0011446	HP:0100543	Cognitive impairment	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0011446	HP:0002167	Neurological speech impairment	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0011446	HP:0002463	Language impairment	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0011446	HP:0001249	Intellectual disability	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0011446	HP:0001249	Intellectual disability	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0011446	HP:0001249	Intellectual disability	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0011446	HP:0002463	Language impairment	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0100543	Cognitive impairment	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002463	Language impairment	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0011446	HP:0001249	Intellectual disability	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0002167	Neurological speech impairment	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011446	HP:0002463	Language impairment	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0011446	HP:0001249	Intellectual disability	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011446	HP:0002167	Neurological speech impairment	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0011446	HP:0002463	Language impairment	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0011446	HP:0100543	Cognitive impairment	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	.		88
HP:0011446	HP:0001249	Intellectual disability	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0011446	HP:0001249	Intellectual disability	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0011446	HP:0002167	Neurological speech impairment	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011446	HP:0002167	Neurological speech impairment	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011446	HP:0002463	Language impairment	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011446	HP:0002167	Neurological speech impairment	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011446	HP:0002463	Language impairment	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent		201
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0011446	HP:0002167	Neurological speech impairment	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011446	HP:0002463	Language impairment	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0011446	HP:0001249	Intellectual disability	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0011446	HP:0002167	Neurological speech impairment	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0011446	HP:0002463	Language impairment	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0011446	HP:0001249	Intellectual disability	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0011446	HP:0100543	Cognitive impairment	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0011446	HP:0001249	Intellectual disability	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0011446	HP:0002167	Neurological speech impairment	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0011446	HP:0001249	Intellectual disability	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent		163
HP:0011446	HP:0002167	Neurological speech impairment	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0011446	HP:0002167	Neurological speech impairment	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III			163
HP:0011446	HP:0100543	Cognitive impairment	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0011446	HP:0002463	Language impairment	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0011446	HP:0002167	Neurological speech impairment	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0011446	HP:0002167	Neurological speech impairment	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		19
HP:0011446	HP:0001249	Intellectual disability	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		53
HP:0011446	HP:0001249	Intellectual disability	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011446	HP:0001249	Intellectual disability	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		21
HP:0011446	HP:0001249	Intellectual disability	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional		39
HP:0011446	HP:0002167	Neurological speech impairment	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011446	HP:0002463	Language impairment	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0011446	HP:0100543	Cognitive impairment	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0011446	HP:0002167	Neurological speech impairment	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0011446	HP:0002463	Language impairment	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0011446	HP:0001249	Intellectual disability	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0011446	HP:0001249	Intellectual disability	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011446	HP:0002463	Language impairment	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011446	HP:0002463	Language impairment	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011446	HP:0001249	Intellectual disability	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0011446	HP:0100543	Cognitive impairment	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy			10
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011446	HP:0002463	Language impairment	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011446	HP:0001249	Intellectual disability	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0002167	Neurological speech impairment	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0002186	Apraxia	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0002463	Language impairment	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0001249	Intellectual disability	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011446	HP:0002167	Neurological speech impairment	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011446	HP:0002463	Language impairment	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011446	HP:0001249	Intellectual disability	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.		231
HP:0011446	HP:0001249	Intellectual disability	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0011446	HP:0002463	Language impairment	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0011446	HP:0001249	Intellectual disability	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011446	HP:0100543	Cognitive impairment	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0011446	HP:0001249	Intellectual disability	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0011446	HP:0001249	Intellectual disability	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0011446	HP:0002167	Neurological speech impairment	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0011446	HP:0002463	Language impairment	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0011446	HP:0001249	Intellectual disability	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0011446	HP:0001249	Intellectual disability	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0002167	Neurological speech impairment	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0002463	Language impairment	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0001249	Intellectual disability	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0011446	HP:0002167	Neurological speech impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0011446	HP:0100543	Cognitive impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0011446	HP:0002167	Neurological speech impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0011446	HP:0100543	Cognitive impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0011446	HP:0002167	Neurological speech impairment	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0011446	HP:0100543	Cognitive impairment	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0011446	HP:0002167	Neurological speech impairment	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0011446	HP:0002186	Apraxia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0011446	HP:0100543	Cognitive impairment	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0011446	HP:0100543	Cognitive impairment	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0011446	HP:0001249	Intellectual disability	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0011446	HP:0002167	Neurological speech impairment	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011446	HP:0002463	Language impairment	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0011446	HP:0100543	Cognitive impairment	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0011446	HP:0002463	Language impairment	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0011446	HP:0001249	Intellectual disability	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011446	HP:0001249	Intellectual disability	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.		39
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0011446	HP:0001249	Intellectual disability	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0011446	HP:0001249	Intellectual disability	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040282 - Frequent		194
HP:0011446	HP:0001249	Intellectual disability	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis			63
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0011446	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0011446	HP:0001249	Intellectual disability	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0004372	Reduced consciousness/confusion	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0011446	HP:0001249	Intellectual disability	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0011446	HP:0001249	Intellectual disability	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		96
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0011446	HP:0001249	Intellectual disability	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		92
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0011446	HP:0001249	Intellectual disability	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0011446	HP:0001249	Intellectual disability	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0011446	HP:0100543	Cognitive impairment	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		225
HP:0011446	HP:0001249	Intellectual disability	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	HP:0040282 - Frequent		225
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0011446	HP:0002463	Language impairment	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0011446	HP:0001249	Intellectual disability	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0011446	HP:0001249	Intellectual disability	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011446	HP:0002167	Neurological speech impairment	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0011446	HP:0001249	Intellectual disability	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0011446	HP:0001249	Intellectual disability	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0011446	HP:0100543	Cognitive impairment	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0011446	HP:0001249	Intellectual disability	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		11
HP:0011446	HP:0001249	Intellectual disability	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0011446	HP:0002167	Neurological speech impairment	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0011446	HP:0002463	Language impairment	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0011446	HP:0100543	Cognitive impairment	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		21
HP:0011446	HP:0001249	Intellectual disability	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0011446	HP:0002167	Neurological speech impairment	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset			5
HP:0011446	HP:0002167	Neurological speech impairment	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0011446	HP:0001249	Intellectual disability	1	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0011446	HP:0100543	Cognitive impairment	1	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0011446	HP:0100543	Cognitive impairment	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0011446	HP:0100543	Cognitive impairment	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011446	HP:0001249	Intellectual disability	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0011446	HP:0002167	Neurological speech impairment	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0011446	HP:0002463	Language impairment	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0011446	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011446	HP:0002463	Language impairment	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011446	HP:0002463	Language impairment	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0011446	HP:0001249	Intellectual disability	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent		113
HP:0011446	HP:0001249	Intellectual disability	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0011446	HP:0001249	Intellectual disability	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0011446	HP:0002186	Apraxia	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0011446	HP:0001249	Intellectual disability	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0011446	HP:0002167	Neurological speech impairment	1	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration			75
HP:0011446	HP:0100543	Cognitive impairment	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011446	HP:0002167	Neurological speech impairment	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant			75
HP:0011446	HP:0002167	Neurological speech impairment	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0011446	HP:0031908	Micrographia	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0011446	HP:0002167	Neurological speech impairment	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0011446	HP:0002167	Neurological speech impairment	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011446	HP:0002167	Neurological speech impairment	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0011446	HP:0002463	Language impairment	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0011446	HP:0002167	Neurological speech impairment	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0011446	HP:0031908	Micrographia	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0011446	HP:0100543	Cognitive impairment	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0011446	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011446	HP:0002167	Neurological speech impairment	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0011446	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0011446	HP:0001249	Intellectual disability	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0011446	HP:0001249	Intellectual disability	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0011446	HP:0001249	Intellectual disability	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0011446	HP:0001249	Intellectual disability	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0011446	HP:0001249	Intellectual disability	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0011446	HP:0001249	Intellectual disability	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0011446	HP:0002186	Apraxia	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0011446	HP:0002167	Neurological speech impairment	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0011446	HP:0002167	Neurological speech impairment	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0011446	HP:0001249	Intellectual disability	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0011446	HP:0002167	Neurological speech impairment	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0011446	HP:0001249	Intellectual disability	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0011446	HP:0001249	Intellectual disability	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011446	HP:0002167	Neurological speech impairment	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011446	HP:0002463	Language impairment	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0011446	HP:0002463	Language impairment	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0011446	HP:0100543	Cognitive impairment	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0011446	HP:0001249	Intellectual disability	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0011446	HP:0100543	Cognitive impairment	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0011446	HP:0001249	Intellectual disability	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0011446	HP:0100543	Cognitive impairment	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0001249	Intellectual disability	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0011446	HP:0100543	Cognitive impairment	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0011446	HP:0100543	Cognitive impairment	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0011446	HP:0100543	Cognitive impairment	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0011446	HP:0001249	Intellectual disability	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0011446	HP:0100543	Cognitive impairment	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0011446	HP:0100543	Cognitive impairment	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0011446	HP:0001249	Intellectual disability	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0011446	HP:0002186	Apraxia	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0011446	HP:0100543	Cognitive impairment	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0011446	HP:0100543	Cognitive impairment	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0011446	HP:0100543	Cognitive impairment	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0011446	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0011446	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.		99
HP:0011446	HP:0001249	Intellectual disability	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0011446	HP:0100543	Cognitive impairment	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0011446	HP:0100543	Cognitive impairment	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0011446	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.		72
HP:0011446	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0011446	HP:0001249	Intellectual disability	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0011446	HP:0002167	Neurological speech impairment	1	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0011446	HP:0001249	Intellectual disability	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0011446	HP:0001249	Intellectual disability	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0002167	Neurological speech impairment	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0002463	Language impairment	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0001249	Intellectual disability	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0011446	HP:0002167	Neurological speech impairment	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0011446	HP:0002463	Language impairment	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0011446	HP:0001249	Intellectual disability	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0011446	HP:0002186	Apraxia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.		20
HP:0011446	HP:0001249	Intellectual disability	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		20
HP:0011446	HP:0002186	Apraxia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0002463	Language impairment	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0001249	Intellectual disability	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0011446	HP:0002167	Neurological speech impairment	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0002463	Language impairment	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0011446	HP:0001249	Intellectual disability	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0011446	HP:0002167	Neurological speech impairment	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0011446	HP:0001249	Intellectual disability	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0011446	HP:0002167	Neurological speech impairment	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0011446	HP:0001249	Intellectual disability	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0011446	HP:0001249	Intellectual disability	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent		29
HP:0011446	HP:0001249	Intellectual disability	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0011446	HP:0001249	Intellectual disability	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011446	HP:0002167	Neurological speech impairment	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011446	HP:0002463	Language impairment	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011446	HP:0001249	Intellectual disability	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0011446	HP:0001249	Intellectual disability	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0011446	HP:0001249	Intellectual disability	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0011446	HP:0002463	Language impairment	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0011446	HP:0002167	Neurological speech impairment	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0011446	HP:0002463	Language impairment	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0011446	HP:0002463	Language impairment	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0011446	HP:0001249	Intellectual disability	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		86
HP:0011446	HP:0100543	Cognitive impairment	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		86
HP:0011446	HP:0001249	Intellectual disability	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0011446	HP:0001249	Intellectual disability	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0011446	HP:0002167	Neurological speech impairment	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0011446	HP:0002186	Apraxia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0011446	HP:0002463	Language impairment	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0011446	HP:0002167	Neurological speech impairment	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0011446	HP:0002463	Language impairment	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0011446	HP:0100543	Cognitive impairment	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0011446	HP:0001249	Intellectual disability	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002186	Apraxia	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011446	HP:0002186	Apraxia	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0011446	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0011446	HP:0002167	Neurological speech impairment	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0011446	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0011446	HP:0001249	Intellectual disability	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011446	HP:0002463	Language impairment	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0002463	Language impairment	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0011446	HP:0001249	Intellectual disability	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16			1
HP:0011446	HP:0001249	Intellectual disability	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011446	HP:0002463	Language impairment	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0011446	HP:0002463	Language impairment	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0002463	Language impairment	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0001249	Intellectual disability	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0011446	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0011446	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		36
HP:0011446	HP:0002186	Apraxia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011446	HP:0001249	Intellectual disability	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0011446	HP:0002463	Language impairment	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0011446	HP:0001249	Intellectual disability	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0011446	HP:0001249	Intellectual disability	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0011446	HP:0002463	Language impairment	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0011446	HP:0001249	Intellectual disability	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011446	HP:0002463	Language impairment	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0011446	HP:0001249	Intellectual disability	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		84
HP:0011446	HP:0002186	Apraxia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011446	HP:0001249	Intellectual disability	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011446	HP:0002463	Language impairment	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011446	HP:0001249	Intellectual disability	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011446	HP:0002463	Language impairment	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011446	HP:0001249	Intellectual disability	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0011446	HP:0001249	Intellectual disability	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011446	HP:0001249	Intellectual disability	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011446	HP:0002463	Language impairment	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011446	HP:0001249	Intellectual disability	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		57
HP:0011446	HP:0002186	Apraxia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0011446	HP:0002463	Language impairment	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0011446	HP:0001249	Intellectual disability	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		6
HP:0011446	HP:0002186	Apraxia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0002186	Apraxia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011446	HP:0100543	Cognitive impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011446	HP:0100543	Cognitive impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011446	HP:0010524	Agnosia	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0011446	HP:0100543	Cognitive impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011446	HP:0001249	Intellectual disability	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0011446	HP:0002463	Language impairment	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0011446	HP:0001249	Intellectual disability	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0011446	HP:0002167	Neurological speech impairment	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0011446	HP:0002186	Apraxia	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0011446	HP:0002186	Apraxia	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0011446	HP:0100543	Cognitive impairment	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset			55
HP:0011446	HP:0100543	Cognitive impairment	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0011446	HP:0001249	Intellectual disability	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0011446	HP:0001249	Intellectual disability	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0011446	HP:0001249	Intellectual disability	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0011446	HP:0100543	Cognitive impairment	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		563
HP:0011446	HP:0002167	Neurological speech impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	HP:0002186	Apraxia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	HP:0100543	Cognitive impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	HP:0002167	Neurological speech impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0011446	HP:0100543	Cognitive impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0011446	HP:0002463	Language impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0011446	HP:0001249	Intellectual disability	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0011446	HP:0002167	Neurological speech impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0011446	HP:0002463	Language impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0011446	HP:0002167	Neurological speech impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0011446	HP:0100543	Cognitive impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0011446	HP:0002463	Language impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0011446	HP:0002167	Neurological speech impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0011446	HP:0002186	Apraxia	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0011446	HP:0100543	Cognitive impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011446	HP:0001249	Intellectual disability	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0011446	HP:0002167	Neurological speech impairment	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011446	HP:0002463	Language impairment	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0011446	HP:0002167	Neurological speech impairment	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011446	HP:0002463	Language impairment	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011446	HP:0100543	Cognitive impairment	1	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease			50
HP:0011446	HP:0001249	Intellectual disability	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0002186	Apraxia	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0002463	Language impairment	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0002167	Neurological speech impairment	1	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46			2
HP:0011446	HP:0002167	Neurological speech impairment	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011446	HP:0001249	Intellectual disability	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0011446	HP:0002167	Neurological speech impairment	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0011446	HP:0100543	Cognitive impairment	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0011446	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0011446	HP:0001249	Intellectual disability	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0011446	HP:0100543	Cognitive impairment	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0100543	Cognitive impairment	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0002463	Language impairment	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011446	HP:0002186	Apraxia	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011446	HP:0100543	Cognitive impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent		60
HP:0011446	HP:0100543	Cognitive impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent		60
HP:0011446	HP:0002463	Language impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011446	HP:0002463	Language impairment	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0011446	HP:0001249	Intellectual disability	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent		60
HP:0011446	HP:0002167	Neurological speech impairment	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0011446	HP:0001249	Intellectual disability	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0011446	HP:0002463	Language impairment	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0011446	HP:0001249	Intellectual disability	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0011446	HP:0002167	Neurological speech impairment	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011446	HP:0002463	Language impairment	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011446	HP:0001249	Intellectual disability	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0011446	HP:0002167	Neurological speech impairment	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0011446	HP:0002463	Language impairment	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0002186	Apraxia	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0100543	Cognitive impairment	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0011446	HP:0002463	Language impairment	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0001249	Intellectual disability	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0011446	HP:0002463	Language impairment	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0011446	HP:0001249	Intellectual disability	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0011446	HP:0002167	Neurological speech impairment	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0011446	HP:0002463	Language impairment	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0011446	HP:0002167	Neurological speech impairment	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011446	HP:0100543	Cognitive impairment	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011446	HP:0010524	Agnosia	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011446	HP:0002167	Neurological speech impairment	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011446	HP:0100543	Cognitive impairment	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011446	HP:0010524	Agnosia	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011446	HP:0002167	Neurological speech impairment	1	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		66
HP:0011446	HP:0002167	Neurological speech impairment	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1			66
HP:0011446	HP:0002186	Apraxia	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4			244
HP:0011446	HP:0100543	Cognitive impairment	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	HP:0040283 - Occasional		244
HP:0011446	HP:0002167	Neurological speech impairment	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0011446	HP:0002186	Apraxia	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0011446	HP:0100543	Cognitive impairment	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0011446	HP:0001249	Intellectual disability	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		244
HP:0011446	HP:0001249	Intellectual disability	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0011446	HP:0001249	Intellectual disability	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0011446	HP:0001249	Intellectual disability	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional		52
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional		65
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0011446	HP:0100543	Cognitive impairment	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.		103
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040281 - Very frequent		103
HP:0011446	HP:0001249	Intellectual disability	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0011446	HP:0002463	Language impairment	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011446	HP:0002463	Language impairment	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0011446	HP:0002186	Apraxia	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0011446	HP:0002167	Neurological speech impairment	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0011446	HP:0001249	Intellectual disability	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0011446	HP:0002167	Neurological speech impairment	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0011446	HP:0100543	Cognitive impairment	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0011446	HP:0001249	Intellectual disability	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0011446	HP:0001249	Intellectual disability	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040281 - Very frequent		35
HP:0011446	HP:0002167	Neurological speech impairment	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011446	HP:0002167	Neurological speech impairment	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0011446	HP:0002463	Language impairment	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011446	HP:0002463	Language impairment	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0011446	HP:0001249	Intellectual disability	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0011446	HP:0001249	Intellectual disability	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0011446	HP:0001249	Intellectual disability	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent		464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0011446	HP:0100543	Cognitive impairment	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		464
HP:0011446	HP:0002167	Neurological speech impairment	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0011446	HP:0100543	Cognitive impairment	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011446	HP:0001249	Intellectual disability	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.		38
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011446	HP:0002463	Language impairment	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0011446	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0011446	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011446	HP:0001249	Intellectual disability	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011446	HP:0001249	Intellectual disability	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0011446	HP:0002463	Language impairment	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0011446	HP:0002463	Language impairment	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0011446	HP:0002167	Neurological speech impairment	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0100543	Cognitive impairment	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0002463	Language impairment	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0001249	Intellectual disability	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011446	HP:0002167	Neurological speech impairment	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011446	HP:0002463	Language impairment	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011446	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0011446	HP:0002167	Neurological speech impairment	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0011446	HP:0100543	Cognitive impairment	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0011446	HP:0001249	Intellectual disability	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0011446	HP:0002167	Neurological speech impairment	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0011446	HP:0002463	Language impairment	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0011446	HP:0001249	Intellectual disability	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0011446	HP:0002167	Neurological speech impairment	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0011446	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0011446	HP:0001249	Intellectual disability	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0011446	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0011446	HP:0002167	Neurological speech impairment	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0011446	HP:0100543	Cognitive impairment	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011446	HP:0002463	Language impairment	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0011446	HP:0002463	Language impairment	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0011446	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0011446	HP:0002463	Language impairment	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0011446	HP:0001249	Intellectual disability	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0011446	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0011446	HP:0002167	Neurological speech impairment	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0011446	HP:0100543	Cognitive impairment	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011446	HP:0002463	Language impairment	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011446	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:0011446	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:0011446	HP:0100543	Cognitive impairment	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent		221
HP:0011446	HP:0001249	Intellectual disability	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011446	HP:0002463	Language impairment	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0011446	HP:0001249	Intellectual disability	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011446	HP:0100543	Cognitive impairment	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0011446	HP:0001249	Intellectual disability	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0001249	Intellectual disability	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0011446	HP:0002167	Neurological speech impairment	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0011446	HP:0002463	Language impairment	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0011446	HP:0001249	Intellectual disability	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0011446	HP:0002167	Neurological speech impairment	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011446	HP:0002186	Apraxia	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011446	HP:0001249	Intellectual disability	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011446	HP:0002167	Neurological speech impairment	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011446	HP:0100543	Cognitive impairment	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011446	HP:0002463	Language impairment	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011446	HP:0001249	Intellectual disability	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		42
HP:0011446	HP:0001249	Intellectual disability	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0002167	Neurological speech impairment	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0002463	Language impairment	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0001249	Intellectual disability	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0002167	Neurological speech impairment	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0002463	Language impairment	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0001249	Intellectual disability	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011446	HP:0002463	Language impairment	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011446	HP:0002463	Language impairment	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011446	HP:0001249	Intellectual disability	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0011446	HP:0002463	Language impairment	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0011446	HP:0001249	Intellectual disability	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011446	HP:0002463	Language impairment	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011446	HP:0002463	Language impairment	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0011446	HP:0100543	Cognitive impairment	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0011446	HP:0100543	Cognitive impairment	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional		5
HP:0011446	HP:0001249	Intellectual disability	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011446	HP:0002463	Language impairment	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0011446	HP:0001249	Intellectual disability	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0011446	HP:0002463	Language impairment	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0011446	HP:0001249	Intellectual disability	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.		2
HP:0011446	HP:0001249	Intellectual disability	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0011446	HP:0002463	Language impairment	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0100543	Cognitive impairment	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0002463	Language impairment	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0011446	HP:0001249	Intellectual disability	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0011446	HP:0002167	Neurological speech impairment	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0011446	HP:0100543	Cognitive impairment	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0011446	HP:0001249	Intellectual disability	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0011446	HP:0001249	Intellectual disability	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0011446	HP:0001249	Intellectual disability	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0011446	HP:0002167	Neurological speech impairment	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0011446	HP:0002463	Language impairment	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011446	HP:0002167	Neurological speech impairment	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease			1
HP:0011446	HP:0100543	Cognitive impairment	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease			1
HP:0011446	HP:0002167	Neurological speech impairment	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0011446	HP:0100543	Cognitive impairment	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0011446	HP:0001249	Intellectual disability	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011446	HP:0100543	Cognitive impairment	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011446	HP:0002167	Neurological speech impairment	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0011446	HP:0001249	Intellectual disability	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0011446	HP:0002167	Neurological speech impairment	1	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B			133
HP:0011446	HP:0001249	Intellectual disability	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		133
HP:0011446	HP:0002167	Neurological speech impairment	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0011446	HP:0100543	Cognitive impairment	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0011446	HP:0001249	Intellectual disability	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0100543	Cognitive impairment	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011446	HP:0001249	Intellectual disability	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0011446	HP:0001249	Intellectual disability	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011446	HP:0002463	Language impairment	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0011446	HP:0100543	Cognitive impairment	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0011446	HP:0100543	Cognitive impairment	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0002186	Apraxia	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0002463	Language impairment	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0100543	Cognitive impairment	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0011446	HP:0002463	Language impairment	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0011446	HP:0100543	Cognitive impairment	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0011446	HP:0100543	Cognitive impairment	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0011446	HP:0001249	Intellectual disability	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011446	HP:0002463	Language impairment	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011446	HP:0100543	Cognitive impairment	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0011446	HP:0001249	Intellectual disability	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040284 - Very rare		37
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0011446	HP:0002167	Neurological speech impairment	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0011446	HP:0100543	Cognitive impairment	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	HP:0040283 - Occasional		37
HP:0011446	HP:0002463	Language impairment	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0011446	HP:0001249	Intellectual disability	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0011446	HP:0002463	Language impairment	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0011446	HP:0002186	Apraxia	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040281 - Very frequent		69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent		69
HP:0011446	HP:0002463	Language impairment	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0011446	HP:0002167	Neurological speech impairment	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO			69
HP:0011446	HP:0100543	Cognitive impairment	1	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features			69
HP:0011446	HP:0001249	Intellectual disability	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0011446	HP:0002167	Neurological speech impairment	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0011446	HP:0002463	Language impairment	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0011446	HP:0002167	Neurological speech impairment	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0011446	HP:0002167	Neurological speech impairment	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0001249	Intellectual disability	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0011446	HP:0001249	Intellectual disability	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0011446	HP:0001249	Intellectual disability	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011446	HP:0100543	Cognitive impairment	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011446	HP:0001249	Intellectual disability	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0011446	HP:0001249	Intellectual disability	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0011446	HP:0001249	Intellectual disability	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0011446	HP:0001249	Intellectual disability	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0011446	HP:0002167	Neurological speech impairment	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0011446	HP:0001249	Intellectual disability	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0011446	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0011446	HP:0002167	Neurological speech impairment	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0011446	HP:0002463	Language impairment	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0011446	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0011446	HP:0002167	Neurological speech impairment	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0011446	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.		49
HP:0011446	HP:0001249	Intellectual disability	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent		49
HP:0011446	HP:0002167	Neurological speech impairment	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0011446	HP:0002463	Language impairment	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011446	HP:0002167	Neurological speech impairment	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011446	HP:0002463	Language impairment	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		94
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0011446	HP:0001249	Intellectual disability	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		94
HP:0011446	HP:0002167	Neurological speech impairment	1	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		94
HP:0011446	HP:0001249	Intellectual disability	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0011446	HP:0002463	Language impairment	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0011446	HP:0001249	Intellectual disability	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0002167	Neurological speech impairment	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0002463	Language impairment	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0100543	Cognitive impairment	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0011446	HP:0100543	Cognitive impairment	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0002167	Neurological speech impairment	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0011446	HP:0100543	Cognitive impairment	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0011446	HP:0002167	Neurological speech impairment	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0100543	Cognitive impairment	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0002167	Neurological speech impairment	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0100543	Cognitive impairment	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0002167	Neurological speech impairment	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0011446	HP:0002186	Apraxia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0011446	HP:0010524	Agnosia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	HP:0040283 - Occasional		241
HP:0011446	HP:0031868	Optic ataxia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0002186	Apraxia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0002463	Language impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0010524	Agnosia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0011446	HP:0002463	Language impairment	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0011446	HP:0002463	Language impairment	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0011446	HP:0002186	Apraxia	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0011446	HP:0002463	Language impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0011446	HP:0002167	Neurological speech impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0011446	HP:0010524	Agnosia	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0011446	HP:0002186	Apraxia	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0002186	Apraxia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0100543	Cognitive impairment	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0002463	Language impairment	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0010524	Agnosia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0001249	Intellectual disability	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0002167	Neurological speech impairment	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0002463	Language impairment	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0001249	Intellectual disability	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011446	HP:0001249	Intellectual disability	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0002167	Neurological speech impairment	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0002463	Language impairment	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0001249	Intellectual disability	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011446	HP:0002463	Language impairment	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011446	HP:0002463	Language impairment	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011446	HP:0002463	Language impairment	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011446	HP:0001249	Intellectual disability	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0011446	HP:0001249	Intellectual disability	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.		54
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002167	Neurological speech impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0002186	Apraxia	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0002463	Language impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002167	Neurological speech impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0002186	Apraxia	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0002463	Language impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002167	Neurological speech impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0002186	Apraxia	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0002463	Language impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002167	Neurological speech impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0002186	Apraxia	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0002463	Language impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002167	Neurological speech impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011446	HP:0002463	Language impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011446	HP:0001249	Intellectual disability	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		40
HP:0011446	HP:0001249	Intellectual disability	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		40
HP:0011446	HP:0001249	Intellectual disability	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.		34
HP:0011446	HP:0001249	Intellectual disability	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0011446	HP:0001249	Intellectual disability	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0011446	HP:0002167	Neurological speech impairment	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		948
HP:0011446	HP:0002463	Language impairment	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011446	HP:0100543	Cognitive impairment	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0011446	HP:0001249	Intellectual disability	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0011446	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0011446	HP:0002167	Neurological speech impairment	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0011446	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011446	HP:0001249	Intellectual disability	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011446	HP:0100543	Cognitive impairment	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0011446	HP:0001249	Intellectual disability	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0011446	HP:0001249	Intellectual disability	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0011446	HP:0002167	Neurological speech impairment	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0011446	HP:0002463	Language impairment	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0011446	HP:0001249	Intellectual disability	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011446	HP:0100543	Cognitive impairment	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011446	HP:0001249	Intellectual disability	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011446	HP:0002167	Neurological speech impairment	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011446	HP:0002463	Language impairment	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0011446	HP:0002463	Language impairment	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0011446	HP:0001249	Intellectual disability	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0011446	HP:0002167	Neurological speech impairment	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0011446	HP:0002463	Language impairment	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011446	HP:0002186	Apraxia	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011446	HP:0002463	Language impairment	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011446	HP:0001249	Intellectual disability	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0011446	HP:0001249	Intellectual disability	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0011446	HP:0001249	Intellectual disability	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0011446	HP:0002463	Language impairment	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011446	HP:0002463	Language impairment	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011446	HP:0002167	Neurological speech impairment	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0001249	Intellectual disability	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0011446	HP:0002167	Neurological speech impairment	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011446	HP:0002463	Language impairment	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011446	HP:0001249	Intellectual disability	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0011446	HP:0001249	Intellectual disability	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0011446	HP:0002167	Neurological speech impairment	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0011446	HP:0002463	Language impairment	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011446	HP:0002463	Language impairment	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011446	HP:0001249	Intellectual disability	1	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency	HP:0040281 - Very frequent		43
HP:0011446	HP:0001249	Intellectual disability	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0011446	HP:0100543	Cognitive impairment	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0011446	HP:0001249	Intellectual disability	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011446	HP:0002167	Neurological speech impairment	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011446	HP:0002463	Language impairment	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0011446	HP:0002463	Language impairment	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0011446	HP:0001249	Intellectual disability	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0011446	HP:0001249	Intellectual disability	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0002463	Language impairment	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0001249	Intellectual disability	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent		31
HP:0011446	HP:0001249	Intellectual disability	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011446	HP:0100543	Cognitive impairment	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0001249	Intellectual disability	1	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0011446	HP:0001249	Intellectual disability	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0011446	HP:0100543	Cognitive impairment	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0011446	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0011446	HP:0001249	Intellectual disability	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0011446	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011446	HP:0002463	Language impairment	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011446	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0011446	HP:0001249	Intellectual disability	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011446	HP:0002463	Language impairment	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011446	HP:0001249	Intellectual disability	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0002167	Neurological speech impairment	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0002463	Language impairment	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0001249	Intellectual disability	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011446	HP:0002167	Neurological speech impairment	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011446	HP:0002463	Language impairment	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011446	HP:0002463	Language impairment	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0011446	HP:0002167	Neurological speech impairment	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0011446	HP:0001249	Intellectual disability	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0011446	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0011446	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.		9
HP:0011446	HP:0001249	Intellectual disability	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0011446	HP:0002167	Neurological speech impairment	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0011446	HP:0001249	Intellectual disability	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011446	HP:0001249	Intellectual disability	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011446	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0002167	Neurological speech impairment	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0002186	Apraxia	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0002463	Language impairment	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0002167	Neurological speech impairment	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011446	HP:0002463	Language impairment	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011446	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0001249	Intellectual disability	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.		150
HP:0011446	HP:0002167	Neurological speech impairment	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0002167	Neurological speech impairment	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011446	HP:0002463	Language impairment	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011446	HP:0002463	Language impairment	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011446	HP:0001249	Intellectual disability	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	HP:0002167	Neurological speech impairment	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	HP:0002463	Language impairment	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	HP:0002167	Neurological speech impairment	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011446	HP:0002463	Language impairment	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0011446	HP:0001249	Intellectual disability	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0011446	HP:0002167	Neurological speech impairment	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0011446	HP:0001249	Intellectual disability	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0011446	HP:0002167	Neurological speech impairment	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0011446	HP:0001249	Intellectual disability	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0011446	HP:0002167	Neurological speech impairment	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0011446	HP:0002167	Neurological speech impairment	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0002463	Language impairment	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0002167	Neurological speech impairment	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001249	Intellectual disability	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0011446	HP:0001249	Intellectual disability	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0011446	HP:0001249	Intellectual disability	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0011446	HP:0100543	Cognitive impairment	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0011446	HP:0001249	Intellectual disability	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent		16
HP:0011446	HP:0100543	Cognitive impairment	1	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19	.		2
HP:0011446	HP:0001249	Intellectual disability	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0011446	HP:0100543	Cognitive impairment	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0100543	Cognitive impairment	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0011446	HP:0001249	Intellectual disability	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0011446	HP:0001249	Intellectual disability	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0011446	HP:0001249	Intellectual disability	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011446	HP:0001249	Intellectual disability	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0011446	HP:0001249	Intellectual disability	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		95
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		45
HP:0011446	HP:0001249	Intellectual disability	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0011446	HP:0001249	Intellectual disability	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0011446	HP:0001249	Intellectual disability	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011446	HP:0002167	Neurological speech impairment	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0011446	HP:0002167	Neurological speech impairment	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0011446	HP:0100543	Cognitive impairment	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72			3
HP:0011446	HP:0001249	Intellectual disability	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0011446	HP:0002167	Neurological speech impairment	1	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features			334
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0011446	HP:0002463	Language impairment	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0011446	HP:0001249	Intellectual disability	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0011446	HP:0002167	Neurological speech impairment	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0011446	HP:0002463	Language impairment	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011446	HP:0002167	Neurological speech impairment	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011446	HP:0001249	Intellectual disability	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0011446	HP:0001249	Intellectual disability	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040282 - Frequent		572
HP:0011446	HP:0002167	Neurological speech impairment	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011446	HP:0001249	Intellectual disability	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		572
HP:0011446	HP:0002167	Neurological speech impairment	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0011446	HP:0002167	Neurological speech impairment	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0011446	HP:0002463	Language impairment	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0011446	HP:0001249	Intellectual disability	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0011446	HP:0001249	Intellectual disability	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0011446	HP:0002167	Neurological speech impairment	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0011446	HP:0002167	Neurological speech impairment	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0011446	HP:0001249	Intellectual disability	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0011446	HP:0001249	Intellectual disability	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0011446	HP:0001249	Intellectual disability	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0011446	HP:0002463	Language impairment	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0011446	HP:0001249	Intellectual disability	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0011446	HP:0002167	Neurological speech impairment	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011446	HP:0002167	Neurological speech impairment	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0011446	HP:0002463	Language impairment	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0011446	HP:0100543	Cognitive impairment	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent		43
HP:0011446	HP:0001249	Intellectual disability	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent		69
HP:0011446	HP:0001249	Intellectual disability	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0011446	HP:0002167	Neurological speech impairment	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0011446	HP:0001249	Intellectual disability	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011446	HP:0001249	Intellectual disability	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0011446	HP:0001249	Intellectual disability	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011446	HP:0002463	Language impairment	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0011446	HP:0002463	Language impairment	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0011446	HP:0001249	Intellectual disability	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0011446	HP:0100543	Cognitive impairment	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0100543	Cognitive impairment	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0011446	HP:0100543	Cognitive impairment	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0011446	HP:0001249	Intellectual disability	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0011446	HP:0001249	Intellectual disability	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0011446	HP:0002167	Neurological speech impairment	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0011446	HP:0002463	Language impairment	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0011446	HP:0002167	Neurological speech impairment	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0011446	HP:0001249	Intellectual disability	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011446	HP:0001249	Intellectual disability	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011446	HP:0002463	Language impairment	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011446	HP:0001249	Intellectual disability	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0011446	HP:0002186	Apraxia	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0011446	HP:0002167	Neurological speech impairment	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0011446	HP:0001249	Intellectual disability	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011446	HP:0001249	Intellectual disability	1	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent		14
HP:0011446	HP:0002167	Neurological speech impairment	1	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0011446	HP:0100543	Cognitive impairment	1	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0011446	HP:0002167	Neurological speech impairment	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0100543	Cognitive impairment	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0011446	HP:0100543	Cognitive impairment	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0011446	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0011446	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0011446	HP:0100543	Cognitive impairment	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011446	HP:0001249	Intellectual disability	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0011446	HP:0001249	Intellectual disability	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011446	HP:0002463	Language impairment	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011446	HP:0001249	Intellectual disability	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0100543	Cognitive impairment	1	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		90
HP:0011446	HP:0001249	Intellectual disability	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0011446	HP:0100543	Cognitive impairment	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0011446	HP:0100543	Cognitive impairment	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0011446	HP:0001249	Intellectual disability	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0011446	HP:0001249	Intellectual disability	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0011446	HP:0002186	Apraxia	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0011446	HP:0002463	Language impairment	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0011446	HP:0002167	Neurological speech impairment	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0011446	HP:0002463	Language impairment	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0011446	HP:0001249	Intellectual disability	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0011446	HP:0001249	Intellectual disability	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0011446	HP:0001249	Intellectual disability	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0011446	HP:0001249	Intellectual disability	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0011446	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		129
HP:0011446	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0011446	HP:0001249	Intellectual disability	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0011446	HP:0002167	Neurological speech impairment	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011446	HP:0002463	Language impairment	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0011446	HP:0001249	Intellectual disability	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0011446	HP:0001249	Intellectual disability	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		109
HP:0011446	HP:0002186	Apraxia	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0011446	HP:0001249	Intellectual disability	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0011446	HP:0002186	Apraxia	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0011446	HP:0001249	Intellectual disability	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011446	HP:0002186	Apraxia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011446	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:0011446	HP:0002186	Apraxia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0011446	HP:0002167	Neurological speech impairment	1	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0011446	HP:0001249	Intellectual disability	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011446	HP:0002167	Neurological speech impairment	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011446	HP:0002463	Language impairment	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011446	HP:0002463	Language impairment	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011446	HP:0001249	Intellectual disability	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0002167	Neurological speech impairment	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011446	HP:0100543	Cognitive impairment	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011446	HP:0010524	Agnosia	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011446	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011446	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0011446	HP:0002167	Neurological speech impairment	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent		65
HP:0011446	HP:0001249	Intellectual disability	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0011446	HP:0002167	Neurological speech impairment	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0011446	HP:0002463	Language impairment	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011446	HP:0002167	Neurological speech impairment	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0100543	Cognitive impairment	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0002167	Neurological speech impairment	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0011446	HP:0100543	Cognitive impairment	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0011446	HP:0001249	Intellectual disability	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		125
HP:0011446	HP:0100543	Cognitive impairment	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0011446	HP:0002167	Neurological speech impairment	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0011446	HP:0002167	Neurological speech impairment	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0011446	HP:0002463	Language impairment	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0011446	HP:0001249	Intellectual disability	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0011446	HP:0002167	Neurological speech impairment	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0011446	HP:0002463	Language impairment	1	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0011446	HP:0002167	Neurological speech impairment	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011446	HP:0002463	Language impairment	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0011446	HP:0002167	Neurological speech impairment	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011446	HP:0002463	Language impairment	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0011446	HP:0002167	Neurological speech impairment	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011446	HP:0002463	Language impairment	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0011446	HP:0002167	Neurological speech impairment	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	HP:0002463	Language impairment	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011446	HP:0002463	Language impairment	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0011446	HP:0001249	Intellectual disability	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0011446	HP:0002463	Language impairment	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0011446	HP:0001249	Intellectual disability	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0011446	HP:0001249	Intellectual disability	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0011446	HP:0002463	Language impairment	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0011446	HP:0002463	Language impairment	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0011446	HP:0002463	Language impairment	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0011446	HP:0002463	Language impairment	1	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0011446	HP:0002463	Language impairment	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0011446	HP:0001249	Intellectual disability	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0002167	Neurological speech impairment	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0002463	Language impairment	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0001249	Intellectual disability	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011446	HP:0002167	Neurological speech impairment	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011446	HP:0002463	Language impairment	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0011446	HP:0001249	Intellectual disability	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0011446	HP:0002167	Neurological speech impairment	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0011446	HP:0002463	Language impairment	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0011446	HP:0002167	Neurological speech impairment	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0011446	HP:0001249	Intellectual disability	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0011446	HP:0002167	Neurological speech impairment	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0011446	HP:0001249	Intellectual disability	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0011446	HP:0001249	Intellectual disability	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0011446	HP:0001249	Intellectual disability	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0011446	HP:0001249	Intellectual disability	1	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	HP:0040283 - Occasional		2
HP:0011446	HP:0002167	Neurological speech impairment	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0011446	HP:0001249	Intellectual disability	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0011446	HP:0002167	Neurological speech impairment	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0011446	HP:0001249	Intellectual disability	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.		8
HP:0011446	HP:0001249	Intellectual disability	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0011446	HP:0001249	Intellectual disability	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0011446	HP:0001249	Intellectual disability	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0011446	HP:0001249	Intellectual disability	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0011446	HP:0001249	Intellectual disability	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0011446	HP:0002167	Neurological speech impairment	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0011446	HP:0002463	Language impairment	1	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0011446	HP:0001249	Intellectual disability	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0002167	Neurological speech impairment	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0002463	Language impairment	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011446	HP:0002167	Neurological speech impairment	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011446	HP:0002463	Language impairment	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011446	HP:0002167	Neurological speech impairment	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011446	HP:0002463	Language impairment	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011446	HP:0002167	Neurological speech impairment	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011446	HP:0002463	Language impairment	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0011446	HP:0002463	Language impairment	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0011446	HP:0001249	Intellectual disability	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		26
HP:0011446	HP:0001249	Intellectual disability	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0011446	HP:0002167	Neurological speech impairment	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011446	HP:0001249	Intellectual disability	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0011446	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0011446	HP:0001249	Intellectual disability	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure			77
HP:0011446	HP:0001249	Intellectual disability	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		77
HP:0011446	HP:0002167	Neurological speech impairment	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0011446	HP:0100543	Cognitive impairment	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0011446	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0002167	Neurological speech impairment	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0002463	Language impairment	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		1053
HP:0011446	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		1053
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		1053
HP:0011446	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent		1053
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome			1053
HP:0011446	HP:0001249	Intellectual disability	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		1053
HP:0011446	HP:0002167	Neurological speech impairment	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011446	HP:0002463	Language impairment	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		126
HP:0011446	HP:0001249	Intellectual disability	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		126
HP:0011446	HP:0100543	Cognitive impairment	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		126
HP:0011446	HP:0100543	Cognitive impairment	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		427
HP:0011446	HP:0001249	Intellectual disability	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		427
HP:0011446	HP:0100543	Cognitive impairment	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		427
HP:0011446	HP:0001249	Intellectual disability	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0011446	HP:0002167	Neurological speech impairment	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0011446	HP:0002463	Language impairment	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0011446	HP:0002167	Neurological speech impairment	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011446	HP:0002463	Language impairment	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0011446	HP:0100543	Cognitive impairment	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0011446	HP:0002463	Language impairment	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0011446	HP:0001249	Intellectual disability	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0011446	HP:0002167	Neurological speech impairment	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0011446	HP:0002463	Language impairment	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0011446	HP:0001249	Intellectual disability	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.		357
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0011446	HP:0100543	Cognitive impairment	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0011446	HP:0002463	Language impairment	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0011446	HP:0100543	Cognitive impairment	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		318
HP:0011446	HP:0100543	Cognitive impairment	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		318
HP:0011446	HP:0002167	Neurological speech impairment	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011446	HP:0002463	Language impairment	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011446	HP:0002167	Neurological speech impairment	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011446	HP:0001249	Intellectual disability	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0011446	HP:0100543	Cognitive impairment	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0011446	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0011446	HP:0002167	Neurological speech impairment	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0011446	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0011446	HP:0100543	Cognitive impairment	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.		61
HP:0011446	HP:0001249	Intellectual disability	1	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0100543	Cognitive impairment	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0002463	Language impairment	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0001249	Intellectual disability	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0011446	HP:0100543	Cognitive impairment	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0100543	Cognitive impairment	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0002463	Language impairment	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011446	HP:0001249	Intellectual disability	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011446	HP:0100543	Cognitive impairment	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	HP:0100543	Cognitive impairment	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	HP:0002463	Language impairment	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0011446	HP:0002463	Language impairment	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0011446	HP:0001249	Intellectual disability	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011446	HP:0100543	Cognitive impairment	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011446	HP:0001249	Intellectual disability	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011446	HP:0100543	Cognitive impairment	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0100543	Cognitive impairment	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0002463	Language impairment	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0002167	Neurological speech impairment	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0011446	HP:0100543	Cognitive impairment	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		2
HP:0011446	HP:0002167	Neurological speech impairment	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011446	HP:0002463	Language impairment	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011446	HP:0001249	Intellectual disability	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0100543	Cognitive impairment	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0001249	Intellectual disability	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011446	HP:0100543	Cognitive impairment	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.		2
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0011446	HP:0001249	Intellectual disability	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0002167	Neurological speech impairment	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0002463	Language impairment	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0002167	Neurological speech impairment	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0011446	HP:0001249	Intellectual disability	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		2
HP:0011446	HP:0001249	Intellectual disability	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0011446	HP:0002167	Neurological speech impairment	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011446	HP:0100543	Cognitive impairment	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011446	HP:0010524	Agnosia	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011446	HP:0001249	Intellectual disability	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011446	HP:0001249	Intellectual disability	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0011446	HP:0001249	Intellectual disability	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0002167	Neurological speech impairment	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0002463	Language impairment	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0001249	Intellectual disability	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0011446	HP:0002167	Neurological speech impairment	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0011446	HP:0002463	Language impairment	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0011446	HP:0002167	Neurological speech impairment	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0011446	HP:0100543	Cognitive impairment	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0011446	HP:0001249	Intellectual disability	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011446	HP:0002463	Language impairment	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011446	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011446	HP:0002167	Neurological speech impairment	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011446	HP:0002463	Language impairment	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011446	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0011446	HP:0002167	Neurological speech impairment	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011446	HP:0002463	Language impairment	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011446	HP:0001249	Intellectual disability	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011446	HP:0002463	Language impairment	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011446	HP:0001249	Intellectual disability	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011446	HP:0002167	Neurological speech impairment	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011446	HP:0002463	Language impairment	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011446	HP:0001249	Intellectual disability	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0011446	HP:0002167	Neurological speech impairment	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011446	HP:0002463	Language impairment	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011446	HP:0001249	Intellectual disability	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011446	HP:0002463	Language impairment	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0011446	HP:0001249	Intellectual disability	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011446	HP:0002167	Neurological speech impairment	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011446	HP:0002463	Language impairment	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011446	HP:0002186	Apraxia	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0011446	HP:0002167	Neurological speech impairment	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0011446	HP:0002186	Apraxia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0011446	HP:0001249	Intellectual disability	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011446	HP:0002463	Language impairment	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011446	HP:0002167	Neurological speech impairment	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011446	HP:0002463	Language impairment	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0011446	HP:0001249	Intellectual disability	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0011446	HP:0002167	Neurological speech impairment	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0011446	HP:0002463	Language impairment	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0011446	HP:0002167	Neurological speech impairment	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0011446	HP:0002463	Language impairment	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0011446	HP:0100543	Cognitive impairment	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0011446	HP:0001249	Intellectual disability	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0011446	HP:0001249	Intellectual disability	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011446	HP:0002463	Language impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0002186	Apraxia	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0002463	Language impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0011446	HP:0002463	Language impairment	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0011446	HP:0002167	Neurological speech impairment	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0011446	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0011446	HP:0002167	Neurological speech impairment	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011446	HP:0002463	Language impairment	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011446	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011446	HP:0002167	Neurological speech impairment	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011446	HP:0002463	Language impairment	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011446	HP:0001249	Intellectual disability	1	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15			53
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0002186	Apraxia	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0002463	Language impairment	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.		67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0002186	Apraxia	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0002463	Language impairment	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0002186	Apraxia	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0002463	Language impairment	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0002186	Apraxia	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0002463	Language impairment	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011446	HP:0002463	Language impairment	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011446	HP:0001249	Intellectual disability	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0011446	HP:0001249	Intellectual disability	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011446	HP:0002167	Neurological speech impairment	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011446	HP:0002463	Language impairment	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011446	HP:0002167	Neurological speech impairment	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	HP:0002463	Language impairment	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	HP:0001249	Intellectual disability	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011446	HP:0002167	Neurological speech impairment	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011446	HP:0002463	Language impairment	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0011446	HP:0002167	Neurological speech impairment	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011446	HP:0002463	Language impairment	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011446	HP:0002167	Neurological speech impairment	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0011446	HP:0100543	Cognitive impairment	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0011446	HP:0002167	Neurological speech impairment	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011446	HP:0002463	Language impairment	1	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011446	HP:0001249	Intellectual disability	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		11
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0011446	HP:0002167	Neurological speech impairment	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011446	HP:0002463	Language impairment	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011446	HP:0001249	Intellectual disability	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0011446	HP:0001249	Intellectual disability	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0011446	HP:0002167	Neurological speech impairment	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0011446	HP:0002167	Neurological speech impairment	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011446	HP:0002463	Language impairment	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011446	HP:0100543	Cognitive impairment	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011446	HP:0002463	Language impairment	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011446	HP:0001249	Intellectual disability	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	HP:0002167	Neurological speech impairment	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	HP:0002463	Language impairment	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0002167	Neurological speech impairment	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0002463	Language impairment	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011446	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0011446	HP:0001249	Intellectual disability	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0001249	Intellectual disability	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011446	HP:0001249	Intellectual disability	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011446	HP:0100543	Cognitive impairment	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011446	HP:0001249	Intellectual disability	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0011446	HP:0002463	Language impairment	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0002463	Language impairment	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0011446	HP:0001249	Intellectual disability	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34	.		8
HP:0011446	HP:0001249	Intellectual disability	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011446	HP:0002463	Language impairment	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0100543	Cognitive impairment	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0011446	HP:0100543	Cognitive impairment	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0011446	HP:0100543	Cognitive impairment	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0011446	HP:0002463	Language impairment	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0011446	HP:0001249	Intellectual disability	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0011446	HP:0001249	Intellectual disability	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0001249	Intellectual disability	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0002463	Language impairment	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0011446	HP:0001249	Intellectual disability	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0011446	HP:0002463	Language impairment	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0011446	HP:0100543	Cognitive impairment	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0011446	HP:0001249	Intellectual disability	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0001249	Intellectual disability	1	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria	.		71
HP:0011446	HP:0001249	Intellectual disability	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	HP:0002463	Language impairment	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0100543	Cognitive impairment	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0002463	Language impairment	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0011446	HP:0001249	Intellectual disability	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0002186	Apraxia	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0100543	Cognitive impairment	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0002463	Language impairment	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0011446	HP:0001249	Intellectual disability	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0011446	HP:0002463	Language impairment	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011446	HP:0002463	Language impairment	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0011446	HP:0100543	Cognitive impairment	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0011446	HP:0031908	Micrographia	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011446	HP:0002463	Language impairment	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0011446	HP:0100543	Cognitive impairment	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0002186	Apraxia	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0011446	HP:0100543	Cognitive impairment	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent		88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		166
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0011446	HP:0100543	Cognitive impairment	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0011446	HP:0001249	Intellectual disability	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0011446	HP:0002463	Language impairment	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0011446	HP:0002463	Language impairment	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0011446	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis			274
HP:0011446	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0011446	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional		274
HP:0011446	HP:0001249	Intellectual disability	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0011446	HP:0001249	Intellectual disability	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0011446	HP:0001249	Intellectual disability	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0011446	HP:0002186	Apraxia	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040283 - Occasional		255
HP:0011446	HP:0002463	Language impairment	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9			255
HP:0011446	HP:0100543	Cognitive impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.		255
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0011446	HP:0002463	Language impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		255
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011446	HP:0002463	Language impairment	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		255
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0011446	HP:0002463	Language impairment	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0011446	HP:0001249	Intellectual disability	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0011446	HP:0100543	Cognitive impairment	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011446	HP:0002186	Apraxia	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011446	HP:0002463	Language impairment	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0011446	HP:0002463	Language impairment	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0011446	HP:0001249	Intellectual disability	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0011446	HP:0001249	Intellectual disability	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011446	HP:0002463	Language impairment	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011446	HP:0001249	Intellectual disability	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040281 - Very frequent		27
HP:0011446	HP:0001249	Intellectual disability	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0011446	HP:0001249	Intellectual disability	1	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011446	HP:0001249	Intellectual disability	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011446	HP:0001249	Intellectual disability	1	SLC36A2 CL E G H	153201	18762	OMIM:242600	IMINOGLYCINURIA	.		2
HP:0011446	HP:0100543	Cognitive impairment	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0011446	HP:0001249	Intellectual disability	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	HP:0002463	Language impairment	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	HP:0001249	Intellectual disability	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0100543	Cognitive impairment	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0002463	Language impairment	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0011446	HP:0001249	Intellectual disability	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0011446	HP:0001249	Intellectual disability	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0011446	HP:0001249	Intellectual disability	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0100543	Cognitive impairment	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0002463	Language impairment	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0001249	Intellectual disability	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0011446	HP:0001249	Intellectual disability	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0011446	HP:0001249	Intellectual disability	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1			59
HP:0011446	HP:0001249	Intellectual disability	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0011446	HP:0001249	Intellectual disability	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		29
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011446	HP:0002463	Language impairment	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	.		29
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0011446	HP:0002463	Language impairment	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional		12
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A19 CL E G H	340024	27960	OMIM:242600	IMINOGLYCINURIA	.		12
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A20 CL E G H	54716	30927	OMIM:242600	IMINOGLYCINURIA	.		96
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0011446	HP:0002463	Language impairment	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040283 - Occasional		81
HP:0011446	HP:0001249	Intellectual disability	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011446	HP:0002186	Apraxia	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011446	HP:0002463	Language impairment	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0011446	HP:0002463	Language impairment	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0011446	HP:0001249	Intellectual disability	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011446	HP:0100543	Cognitive impairment	1	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011446	HP:0001249	Intellectual disability	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0011446	HP:0100543	Cognitive impairment	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011446	HP:0002463	Language impairment	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011446	HP:0001249	Intellectual disability	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011446	HP:0002463	Language impairment	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011446	HP:0002167	Neurological speech impairment	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011446	HP:0002463	Language impairment	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011446	HP:0002167	Neurological speech impairment	1	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome			58
HP:0011446	HP:0001249	Intellectual disability	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0011446	HP:0001249	Intellectual disability	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0011446	HP:0001249	Intellectual disability	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0011446	HP:0001249	Intellectual disability	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0011446	HP:0002167	Neurological speech impairment	1	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7			33
HP:0011446	HP:0002463	Language impairment	1	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7			33
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011446	HP:0002463	Language impairment	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0011446	HP:0002463	Language impairment	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0002463	Language impairment	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011446	HP:0002463	Language impairment	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011446	HP:0001249	Intellectual disability	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040282 - Frequent		87
HP:0011446	HP:0001249	Intellectual disability	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011446	HP:0002463	Language impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011446	HP:0001249	Intellectual disability	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0011446	HP:0100543	Cognitive impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011446	HP:0001249	Intellectual disability	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011446	HP:0002463	Language impairment	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011446	HP:0002463	Language impairment	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011446	HP:0001249	Intellectual disability	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002463	Language impairment	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0001249	Intellectual disability	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011446	HP:0002463	Language impairment	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011446	HP:0001249	Intellectual disability	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011446	HP:0002463	Language impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011446	HP:0001249	Intellectual disability	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0002463	Language impairment	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0002167	Neurological speech impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0011446	HP:0100543	Cognitive impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011446	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0011446	HP:0002186	Apraxia	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0011446	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0011446	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0011446	HP:0100543	Cognitive impairment	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011446	HP:0002463	Language impairment	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0011446	HP:0001249	Intellectual disability	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0002186	Apraxia	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0002463	Language impairment	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0001249	Intellectual disability	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0011446	HP:0001249	Intellectual disability	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011446	HP:0002167	Neurological speech impairment	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011446	HP:0100543	Cognitive impairment	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3	.		91
HP:0011446	HP:0001249	Intellectual disability	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome			174
HP:0011446	HP:0001249	Intellectual disability	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011446	HP:0002167	Neurological speech impairment	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011446	HP:0002463	Language impairment	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011446	HP:0001249	Intellectual disability	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent		22
HP:0011446	HP:0001249	Intellectual disability	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		22
HP:0011446	HP:0002167	Neurological speech impairment	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011446	HP:0002463	Language impairment	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011446	HP:0002167	Neurological speech impairment	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0011446	HP:0100543	Cognitive impairment	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011446	HP:0001249	Intellectual disability	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0011446	HP:0001249	Intellectual disability	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0011446	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:0011446	HP:0002186	Apraxia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0011446	HP:0001249	Intellectual disability	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0011446	HP:0001249	Intellectual disability	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0011446	HP:0002167	Neurological speech impairment	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0011446	HP:0001249	Intellectual disability	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011446	HP:0002167	Neurological speech impairment	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011446	HP:0002463	Language impairment	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0011446	HP:0001249	Intellectual disability	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0011446	HP:0002167	Neurological speech impairment	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0011446	HP:0001249	Intellectual disability	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0001249	Intellectual disability	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent		94
HP:0011446	HP:0001249	Intellectual disability	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body			65
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body			65
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0011446	HP:0002167	Neurological speech impairment	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant			65
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant			65
HP:0011446	HP:0031908	Micrographia	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0011446	HP:0100543	Cognitive impairment	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0011446	HP:0002167	Neurological speech impairment	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0011446	HP:0100543	Cognitive impairment	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0011446	HP:0031908	Micrographia	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0011446	HP:0100543	Cognitive impairment	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body			2
HP:0011446	HP:0002167	Neurological speech impairment	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002463	Language impairment	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0011446	HP:0100543	Cognitive impairment	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0011446	HP:0002167	Neurological speech impairment	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0011446	HP:0100543	Cognitive impairment	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0011446	HP:0001249	Intellectual disability	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0011446	HP:0001249	Intellectual disability	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0002167	Neurological speech impairment	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0002463	Language impairment	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0002167	Neurological speech impairment	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011446	HP:0002463	Language impairment	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011446	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.		37
HP:0011446	HP:0002167	Neurological speech impairment	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0011446	HP:0002463	Language impairment	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1			37
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011446	HP:0002167	Neurological speech impairment	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011446	HP:0002463	Language impairment	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011446	HP:0001249	Intellectual disability	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011446	HP:0002167	Neurological speech impairment	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011446	HP:0002186	Apraxia	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0011446	HP:0002463	Language impairment	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0011446	HP:0001249	Intellectual disability	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011446	HP:0002167	Neurological speech impairment	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011446	HP:0002186	Apraxia	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0011446	HP:0002463	Language impairment	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011446	HP:0001249	Intellectual disability	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0011446	HP:0002167	Neurological speech impairment	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0011446	HP:0002463	Language impairment	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0011446	HP:0002167	Neurological speech impairment	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0011446	HP:0002167	Neurological speech impairment	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0011446	HP:0002463	Language impairment	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002186	Apraxia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0100543	Cognitive impairment	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002463	Language impairment	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0010524	Agnosia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002167	Neurological speech impairment	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0011446	HP:0001249	Intellectual disability	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011446	HP:0002167	Neurological speech impairment	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0011446	HP:0001249	Intellectual disability	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent		26
HP:0011446	HP:0100543	Cognitive impairment	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0011446	HP:0002167	Neurological speech impairment	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0011446	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:0011446	HP:0004372	Reduced consciousness/confusion	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011446	HP:0001249	Intellectual disability	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011446	HP:0002167	Neurological speech impairment	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011446	HP:0002463	Language impairment	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011446	HP:0001249	Intellectual disability	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011446	HP:0001249	Intellectual disability	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0011446	HP:0001249	Intellectual disability	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0011446	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:0011446	HP:0002186	Apraxia	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0011446	HP:0001249	Intellectual disability	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002463	Language impairment	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0001249	Intellectual disability	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0011446	HP:0002463	Language impairment	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0011446	HP:0001249	Intellectual disability	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0011446	HP:0002167	Neurological speech impairment	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0011446	HP:0002463	Language impairment	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0011446	HP:0001249	Intellectual disability	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011446	HP:0002167	Neurological speech impairment	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011446	HP:0002463	Language impairment	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0011446	HP:0002167	Neurological speech impairment	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0011446	HP:0002463	Language impairment	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0011446	HP:0002167	Neurological speech impairment	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0011446	HP:0002186	Apraxia	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0011446	HP:0100543	Cognitive impairment	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0011446	HP:0002463	Language impairment	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0011446	HP:0001249	Intellectual disability	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0011446	HP:0002167	Neurological speech impairment	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0011446	HP:0100543	Cognitive impairment	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional		208
HP:0011446	HP:0001249	Intellectual disability	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0011446	HP:0100543	Cognitive impairment	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0011446	HP:0001249	Intellectual disability	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0011446	HP:0002167	Neurological speech impairment	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0011446	HP:0002463	Language impairment	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011446	HP:0002463	Language impairment	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011446	HP:0001249	Intellectual disability	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011446	HP:0001249	Intellectual disability	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		48
HP:0011446	HP:0001249	Intellectual disability	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011446	HP:0002167	Neurological speech impairment	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011446	HP:0002463	Language impairment	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0011446	HP:0001249	Intellectual disability	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0011446	HP:0002167	Neurological speech impairment	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0011446	HP:0002463	Language impairment	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0011446	HP:0001249	Intellectual disability	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002463	Language impairment	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0002463	Language impairment	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0011446	HP:0001249	Intellectual disability	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0011446	HP:0100543	Cognitive impairment	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0011446	HP:0100543	Cognitive impairment	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.		287
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0011446	HP:0100543	Cognitive impairment	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0011446	HP:0100543	Cognitive impairment	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0011446	HP:0002186	Apraxia	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0011446	HP:0100543	Cognitive impairment	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0011446	HP:0002186	Apraxia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0011446	HP:0100543	Cognitive impairment	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0011446	HP:0100543	Cognitive impairment	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0011446	HP:0002167	Neurological speech impairment	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0011446	HP:0100543	Cognitive impairment	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0001249	Intellectual disability	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent		100
HP:0011446	HP:0001249	Intellectual disability	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011446	HP:0002167	Neurological speech impairment	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011446	HP:0002463	Language impairment	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011446	HP:0001249	Intellectual disability	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011446	HP:0002167	Neurological speech impairment	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011446	HP:0002463	Language impairment	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011446	HP:0100543	Cognitive impairment	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011446	HP:0002463	Language impairment	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0011446	HP:0100543	Cognitive impairment	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0011446	HP:0002463	Language impairment	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0011446	HP:0001249	Intellectual disability	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0011446	HP:0002167	Neurological speech impairment	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0011446	HP:0002186	Apraxia	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0011446	HP:0002167	Neurological speech impairment	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011446	HP:0100543	Cognitive impairment	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011446	HP:0002463	Language impairment	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011446	HP:0002167	Neurological speech impairment	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011446	HP:0002167	Neurological speech impairment	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0011446	HP:0001249	Intellectual disability	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0100543	Cognitive impairment	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0002463	Language impairment	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0001249	Intellectual disability	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0011446	HP:0002463	Language impairment	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0011446	HP:0100543	Cognitive impairment	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0011446	HP:0100543	Cognitive impairment	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.		126
HP:0011446	HP:0002463	Language impairment	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0011446	HP:0001249	Intellectual disability	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0002463	Language impairment	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0002167	Neurological speech impairment	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0011446	HP:0100543	Cognitive impairment	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011446	HP:0002167	Neurological speech impairment	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0011446	HP:0100543	Cognitive impairment	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0011446	HP:0002167	Neurological speech impairment	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0011446	HP:0100543	Cognitive impairment	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0011446	HP:0002463	Language impairment	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0011446	HP:0002167	Neurological speech impairment	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0011446	HP:0002186	Apraxia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0011446	HP:0100543	Cognitive impairment	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0011446	HP:0002167	Neurological speech impairment	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0011446	HP:0002186	Apraxia	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0011446	HP:0100543	Cognitive impairment	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0011446	HP:0002463	Language impairment	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0011446	HP:0001249	Intellectual disability	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011446	HP:0001249	Intellectual disability	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011446	HP:0002167	Neurological speech impairment	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011446	HP:0002167	Neurological speech impairment	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011446	HP:0002186	Apraxia	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011446	HP:0002463	Language impairment	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011446	HP:0002463	Language impairment	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011446	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0011446	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0011446	HP:0001249	Intellectual disability	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent		80
HP:0011446	HP:0001249	Intellectual disability	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001249	Intellectual disability	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011446	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0011446	HP:0002167	Neurological speech impairment	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0011446	HP:0002186	Apraxia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0011446	HP:0002463	Language impairment	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0011446	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0011446	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia			50
HP:0011446	HP:0002186	Apraxia	1	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia			50
HP:0011446	HP:0001249	Intellectual disability	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		50
HP:0011446	HP:0002167	Neurological speech impairment	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0011446	HP:0002186	Apraxia	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0011446	HP:0002463	Language impairment	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0011446	HP:0001249	Intellectual disability	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0011446	HP:0001249	Intellectual disability	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0011446	HP:0001249	Intellectual disability	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040280 - Obligate		12
HP:0011446	HP:0001249	Intellectual disability	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0011446	HP:0001249	Intellectual disability	1	ST3GAL3 CL E G H	6487	10866	OMIM:611090	Mental retardation, autosomal recessive 12	.		41
HP:0011446	HP:0002167	Neurological speech impairment	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011446	HP:0002463	Language impairment	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011446	HP:0001249	Intellectual disability	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	HP:0040283 - Occasional		14
HP:0011446	HP:0001249	Intellectual disability	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0011446	HP:0002167	Neurological speech impairment	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0011446	HP:0001249	Intellectual disability	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0011446	HP:0002167	Neurological speech impairment	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011446	HP:0002463	Language impairment	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0011446	HP:0002167	Neurological speech impairment	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011446	HP:0002463	Language impairment	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011446	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0011446	HP:0001249	Intellectual disability	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0011446	HP:0100543	Cognitive impairment	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0011446	HP:0002186	Apraxia	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		110
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0011446	HP:0100543	Cognitive impairment	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0011446	HP:0100543	Cognitive impairment	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0011446	HP:0002463	Language impairment	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare		2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0011446	HP:0001249	Intellectual disability	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0002186	Apraxia	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0002186	Apraxia	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0002186	Apraxia	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0002186	Apraxia	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0001249	Intellectual disability	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011446	HP:0002463	Language impairment	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011446	HP:0002167	Neurological speech impairment	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		31
HP:0011446	HP:0002167	Neurological speech impairment	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011446	HP:0002463	Language impairment	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0011446	HP:0001249	Intellectual disability	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040281 - Very frequent		71
HP:0011446	HP:0001249	Intellectual disability	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0011446	HP:0001249	Intellectual disability	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011446	HP:0002463	Language impairment	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011446	HP:0002167	Neurological speech impairment	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011446	HP:0002463	Language impairment	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011446	HP:0001249	Intellectual disability	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked			19
HP:0011446	HP:0002167	Neurological speech impairment	1	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis	HP:0040283 - Occasional		19
HP:0011446	HP:0001249	Intellectual disability	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040282 - Frequent		19
HP:0011446	HP:0002167	Neurological speech impairment	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0011446	HP:0001249	Intellectual disability	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011446	HP:0002463	Language impairment	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0011446	HP:0001249	Intellectual disability	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0011446	HP:0001249	Intellectual disability	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0011446	HP:0001249	Intellectual disability	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0011446	HP:0002167	Neurological speech impairment	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0011446	HP:0002186	Apraxia	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0011446	HP:0100543	Cognitive impairment	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0011446	HP:0002167	Neurological speech impairment	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0011446	HP:0100543	Cognitive impairment	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0011446	HP:0002167	Neurological speech impairment	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0011446	HP:0100543	Cognitive impairment	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0011446	HP:0002167	Neurological speech impairment	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0011446	HP:0001249	Intellectual disability	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0100543	Cognitive impairment	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011446	HP:0002167	Neurological speech impairment	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011446	HP:0002463	Language impairment	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0011446	HP:0001249	Intellectual disability	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0002167	Neurological speech impairment	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0002463	Language impairment	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	HP:0040283 - Occasional		124
HP:0011446	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		124
HP:0011446	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0011446	HP:0002186	Apraxia	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011446	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0011446	HP:0002167	Neurological speech impairment	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0011446	HP:0002186	Apraxia	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0011446	HP:0002167	Neurological speech impairment	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0011446	HP:0100543	Cognitive impairment	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011446	HP:0001249	Intellectual disability	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0011446	HP:0100543	Cognitive impairment	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		4
HP:0011446	HP:0001249	Intellectual disability	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0011446	HP:0001249	Intellectual disability	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0011446	HP:0100543	Cognitive impairment	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0011446	HP:0100543	Cognitive impairment	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011446	HP:0001249	Intellectual disability	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	HP:0002167	Neurological speech impairment	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	HP:0002463	Language impairment	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011446	HP:0002463	Language impairment	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011446	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0011446	HP:0100543	Cognitive impairment	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011446	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011446	HP:0002167	Neurological speech impairment	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0011446	HP:0001249	Intellectual disability	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0011446	HP:0001249	Intellectual disability	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011446	HP:0001249	Intellectual disability	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011446	HP:0002167	Neurological speech impairment	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011446	HP:0002463	Language impairment	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011446	HP:0001249	Intellectual disability	1	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50			58
HP:0011446	HP:0100543	Cognitive impairment	1	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA			3
HP:0011446	HP:0001249	Intellectual disability	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0011446	HP:0002167	Neurological speech impairment	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0011446	HP:0001249	Intellectual disability	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011446	HP:0002167	Neurological speech impairment	1	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8			1129
HP:0011446	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0011446	HP:0002463	Language impairment	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	.		108
HP:0011446	HP:0001249	Intellectual disability	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		108
HP:0011446	HP:0002167	Neurological speech impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011446	HP:0002463	Language impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0011446	HP:0100543	Cognitive impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0011446	HP:0002463	Language impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0011446	HP:0002463	Language impairment	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0011446	HP:0001249	Intellectual disability	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0011446	HP:0001249	Intellectual disability	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0011446	HP:0100543	Cognitive impairment	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0011446	HP:0100543	Cognitive impairment	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0011446	HP:0002463	Language impairment	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0011446	HP:0002167	Neurological speech impairment	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0011446	HP:0002186	Apraxia	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0011446	HP:0100543	Cognitive impairment	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0011446	HP:0100543	Cognitive impairment	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0011446	HP:0001249	Intellectual disability	1	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96			28
HP:0011446	HP:0002167	Neurological speech impairment	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011446	HP:0002463	Language impairment	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0011446	HP:0002167	Neurological speech impairment	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0011446	HP:0001249	Intellectual disability	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0011446	HP:0100543	Cognitive impairment	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0011446	HP:0002463	Language impairment	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0011446	HP:0001249	Intellectual disability	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0011446	HP:0001249	Intellectual disability	1	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia			6
HP:0011446	HP:0001249	Intellectual disability	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011446	HP:0002167	Neurological speech impairment	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0011446	HP:0001249	Intellectual disability	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0011446	HP:0002167	Neurological speech impairment	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0011446	HP:0002167	Neurological speech impairment	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0011446	HP:0001249	Intellectual disability	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011446	HP:0002167	Neurological speech impairment	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011446	HP:0002463	Language impairment	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0011446	HP:0001249	Intellectual disability	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0011446	HP:0001249	Intellectual disability	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0011446	HP:0002463	Language impairment	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0011446	HP:0002463	Language impairment	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011446	HP:0002167	Neurological speech impairment	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011446	HP:0002463	Language impairment	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0011446	HP:0002463	Language impairment	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0011446	HP:0002463	Language impairment	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0011446	HP:0002463	Language impairment	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0011446	HP:0002167	Neurological speech impairment	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0011446	HP:0100543	Cognitive impairment	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0011446	HP:0002167	Neurological speech impairment	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0011446	HP:0002186	Apraxia	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0011446	HP:0100543	Cognitive impairment	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0011446	HP:0002167	Neurological speech impairment	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011446	HP:0001249	Intellectual disability	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.		43
HP:0011446	HP:0001249	Intellectual disability	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040281 - Very frequent		43
HP:0011446	HP:0002167	Neurological speech impairment	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0002463	Language impairment	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0011446	HP:0002463	Language impairment	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0011446	HP:0002463	Language impairment	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile			271
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0011446	HP:0001249	Intellectual disability	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0011446	HP:0002463	Language impairment	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011446	HP:0002463	Language impairment	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011446	HP:0002463	Language impairment	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0011446	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	HP:0002167	Neurological speech impairment	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	HP:0002463	Language impairment	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0011446	HP:0001249	Intellectual disability	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0011446	HP:0002167	Neurological speech impairment	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011446	HP:0002463	Language impairment	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011446	HP:0002167	Neurological speech impairment	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011446	HP:0100543	Cognitive impairment	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0011446	HP:0002463	Language impairment	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0011446	HP:0100543	Cognitive impairment	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8			20
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8			20
HP:0011446	HP:0002167	Neurological speech impairment	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0011446	HP:0100543	Cognitive impairment	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0011446	HP:0002463	Language impairment	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0011446	HP:0002167	Neurological speech impairment	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0011446	HP:0002186	Apraxia	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0011446	HP:0100543	Cognitive impairment	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0011446	HP:0002167	Neurological speech impairment	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		20
HP:0011446	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41			22
HP:0011446	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011446	HP:0001249	Intellectual disability	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011446	HP:0002167	Neurological speech impairment	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011446	HP:0002463	Language impairment	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011446	HP:0002463	Language impairment	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011446	HP:0001249	Intellectual disability	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0011446	HP:0100543	Cognitive impairment	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0011446	HP:0031908	Micrographia	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0011446	HP:0002167	Neurological speech impairment	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0002186	Apraxia	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0011446	HP:0100543	Cognitive impairment	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0100543	Cognitive impairment	1	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17			7
HP:0011446	HP:0001249	Intellectual disability	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0011446	HP:0002463	Language impairment	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay			1
HP:0011446	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011446	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0002463	Language impairment	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0011446	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011446	HP:0002167	Neurological speech impairment	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011446	HP:0002463	Language impairment	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011446	HP:0001249	Intellectual disability	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0011446	HP:0002167	Neurological speech impairment	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011446	HP:0002463	Language impairment	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011446	HP:0002167	Neurological speech impairment	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040283 - Occasional		16
HP:0011446	HP:0001249	Intellectual disability	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0011446	HP:0001249	Intellectual disability	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		28
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0011446	HP:0002463	Language impairment	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0011446	HP:0001249	Intellectual disability	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011446	HP:0001249	Intellectual disability	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011446	HP:0002167	Neurological speech impairment	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011446	HP:0002167	Neurological speech impairment	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011446	HP:0002463	Language impairment	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011446	HP:0002463	Language impairment	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011446	HP:0001249	Intellectual disability	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0011446	HP:0001249	Intellectual disability	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0011446	HP:0001249	Intellectual disability	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011446	HP:0002167	Neurological speech impairment	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011446	HP:0001249	Intellectual disability	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0011446	HP:0002186	Apraxia	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011446	HP:0001249	Intellectual disability	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0011446	HP:0002186	Apraxia	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011446	HP:0002167	Neurological speech impairment	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0011446	HP:0002463	Language impairment	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0011446	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0011446	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0011446	HP:0001249	Intellectual disability	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0002186	Apraxia	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0001249	Intellectual disability	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011446	HP:0002463	Language impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0011446	HP:0002167	Neurological speech impairment	1	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1			52
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0011446	HP:0002167	Neurological speech impairment	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0011446	HP:0001249	Intellectual disability	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.		17
HP:0011446	HP:0002167	Neurological speech impairment	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0011446	HP:0002463	Language impairment	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14			17
HP:0011446	HP:0001249	Intellectual disability	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011446	HP:0002167	Neurological speech impairment	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011446	HP:0002463	Language impairment	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0011446	HP:0002167	Neurological speech impairment	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0011446	HP:0002463	Language impairment	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0011446	HP:0002167	Neurological speech impairment	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0011446	HP:0002463	Language impairment	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0011446	HP:0002167	Neurological speech impairment	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011446	HP:0002463	Language impairment	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0011446	HP:0001249	Intellectual disability	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0011446	HP:0002167	Neurological speech impairment	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0011446	HP:0100543	Cognitive impairment	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011446	HP:0001249	Intellectual disability	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011446	HP:0002167	Neurological speech impairment	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011446	HP:0002463	Language impairment	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011446	HP:0002167	Neurological speech impairment	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0011446	HP:0001249	Intellectual disability	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011446	HP:0001249	Intellectual disability	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011446	HP:0002463	Language impairment	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011446	HP:0001249	Intellectual disability	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0011446	HP:0001249	Intellectual disability	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.		155
HP:0011446	HP:0002167	Neurological speech impairment	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0011446	HP:0001249	Intellectual disability	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0011446	HP:0001249	Intellectual disability	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011446	HP:0002167	Neurological speech impairment	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011446	HP:0100543	Cognitive impairment	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011446	HP:0010524	Agnosia	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0002186	Apraxia	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0001249	Intellectual disability	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002167	Neurological speech impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0002463	Language impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0100543	Cognitive impairment	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		98
HP:0011446	HP:0002167	Neurological speech impairment	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0011446	HP:0001249	Intellectual disability	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0011446	HP:0002167	Neurological speech impairment	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0011446	HP:0001249	Intellectual disability	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0011446	HP:0002167	Neurological speech impairment	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0011446	HP:0002463	Language impairment	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0011446	HP:0002167	Neurological speech impairment	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0011446	HP:0002463	Language impairment	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0011446	HP:0002167	Neurological speech impairment	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion			42
HP:0011446	HP:0002167	Neurological speech impairment	1	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type			42
HP:0011446	HP:0001249	Intellectual disability	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0011446	HP:0002167	Neurological speech impairment	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0011446	HP:0001249	Intellectual disability	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0011446	HP:0002167	Neurological speech impairment	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0011446	HP:0002463	Language impairment	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0011446	HP:0001249	Intellectual disability	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0011446	HP:0002167	Neurological speech impairment	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0011446	HP:0002463	Language impairment	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0011446	HP:0001249	Intellectual disability	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011446	HP:0002463	Language impairment	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0011446	HP:0002167	Neurological speech impairment	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0011446	HP:0002167	Neurological speech impairment	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0011446	HP:0002463	Language impairment	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant			161
HP:0011446	HP:0001249	Intellectual disability	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011446	HP:0002167	Neurological speech impairment	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011446	HP:0002463	Language impairment	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011446	HP:0002167	Neurological speech impairment	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0100543	Cognitive impairment	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0001249	Intellectual disability	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011446	HP:0002167	Neurological speech impairment	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011446	HP:0002463	Language impairment	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011446	HP:0002167	Neurological speech impairment	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0011446	HP:0002463	Language impairment	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0011446	HP:0001249	Intellectual disability	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011446	HP:0002463	Language impairment	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011446	HP:0001249	Intellectual disability	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0002167	Neurological speech impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0002186	Apraxia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0100543	Cognitive impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0100543	Cognitive impairment	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0011446	HP:0100543	Cognitive impairment	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011446	HP:0002463	Language impairment	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011446	HP:0001249	Intellectual disability	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0011446	HP:0100543	Cognitive impairment	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011446	HP:0100543	Cognitive impairment	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare		103
HP:0011446	HP:0001249	Intellectual disability	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0011446	HP:0002167	Neurological speech impairment	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0011446	HP:0100543	Cognitive impairment	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	.		103
HP:0011446	HP:0002167	Neurological speech impairment	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0011446	HP:0002167	Neurological speech impairment	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0011446	HP:0002463	Language impairment	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0011446	HP:0001249	Intellectual disability	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0011446	HP:0002463	Language impairment	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0011446	HP:0001249	Intellectual disability	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0011446	HP:0002167	Neurological speech impairment	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0011446	HP:0002463	Language impairment	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0011446	HP:0001249	Intellectual disability	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011446	HP:0002463	Language impairment	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2			3
HP:0011446	HP:0002167	Neurological speech impairment	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		3
HP:0011446	HP:0100543	Cognitive impairment	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0011446	HP:0002167	Neurological speech impairment	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0011446	HP:0002463	Language impairment	1	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0011446	HP:0001249	Intellectual disability	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011446	HP:0002167	Neurological speech impairment	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011446	HP:0002463	Language impairment	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011446	HP:0100543	Cognitive impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011446	HP:0001249	Intellectual disability	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	HP:0040284 - Very rare
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0011446	HP:0002463	Language impairment	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011446	HP:0002186	Apraxia	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011446	HP:0002463	Language impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0011446	HP:0010524	Agnosia	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0011446	HP:0001249	Intellectual disability	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0011446	HP:0002186	Apraxia	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0011446	HP:0001249	Intellectual disability	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0011446	HP:0002186	Apraxia	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011446	HP:0002186	Apraxia	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0002463	Language impairment	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0001249	Intellectual disability	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0011446	HP:0002186	Apraxia	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0011446	HP:0001249	Intellectual disability	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011446	HP:0002186	Apraxia	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011446	HP:0002463	Language impairment	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0011446	HP:0002186	Apraxia	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0011446	HP:0002463	Language impairment	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0011446	HP:0002186	Apraxia	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0011446	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0011446	HP:0002186	Apraxia	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011446	HP:0001249	Intellectual disability	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0011446	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:0011446	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:0011446	HP:0002186	Apraxia	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0011446	HP:0001249	Intellectual disability	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0011446	HP:0100543	Cognitive impairment	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0011446	HP:0001249	Intellectual disability	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0011446	HP:0100543	Cognitive impairment	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0002463	Language impairment	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.		166
HP:0011446	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011446	HP:0002186	Apraxia	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011446	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0011446	HP:0002186	Apraxia	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011446	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0011446	HP:0002186	Apraxia	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0011446	HP:0001249	Intellectual disability	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011446	HP:0002186	Apraxia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011446	HP:0001249	Intellectual disability	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0011446	HP:0002167	Neurological speech impairment	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011446	HP:0002463	Language impairment	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0011446	HP:0001249	Intellectual disability	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.		10
HP:0011446	HP:0002167	Neurological speech impairment	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0011446	HP:0002463	Language impairment	1	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6			10
HP:0011446	HP:0001249	Intellectual disability	1	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040281 - Very frequent		65
HP:0011446	HP:0001249	Intellectual disability	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0011446	HP:0002167	Neurological speech impairment	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0011446	HP:0002463	Language impairment	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0011446	HP:0100543	Cognitive impairment	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0001249	Intellectual disability	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0011446	HP:0002463	Language impairment	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0011446	HP:0002463	Language impairment	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0011446	HP:0002167	Neurological speech impairment	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0011446	HP:0002186	Apraxia	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0011446	HP:0002463	Language impairment	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0011446	HP:0001249	Intellectual disability	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011446	HP:0002167	Neurological speech impairment	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011446	HP:0002463	Language impairment	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011446	HP:0001249	Intellectual disability	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0011446	HP:0001249	Intellectual disability	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0002167	Neurological speech impairment	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0002186	Apraxia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0002463	Language impairment	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0001249	Intellectual disability	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002186	Apraxia	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0002186	Apraxia	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0002463	Language impairment	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0001249	Intellectual disability	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0002186	Apraxia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0002463	Language impairment	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0010524	Agnosia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0001249	Intellectual disability	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0011446	HP:0001249	Intellectual disability	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0011446	HP:0001249	Intellectual disability	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0011446	HP:0001249	Intellectual disability	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0011446	HP:0001249	Intellectual disability	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0002167	Neurological speech impairment	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0002463	Language impairment	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0002167	Neurological speech impairment	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0011446	HP:0100543	Cognitive impairment	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011446	HP:0100543	Cognitive impairment	1	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus	HP:0040283 - Occasional		911
HP:0011446	HP:0100543	Cognitive impairment	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0011446	HP:0002463	Language impairment	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0011446	HP:0002167	Neurological speech impairment	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0011446	HP:0002463	Language impairment	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0002167	Neurological speech impairment	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0011446	HP:0002463	Language impairment	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0011446	HP:0001249	Intellectual disability	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0011446	HP:0002167	Neurological speech impairment	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0011446	HP:0002463	Language impairment	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0011446	HP:0002167	Neurological speech impairment	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0011446	HP:0002186	Apraxia	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0011446	HP:0002167	Neurological speech impairment	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0011446	HP:0100543	Cognitive impairment	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0011446	HP:0002167	Neurological speech impairment	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0011446	HP:0002463	Language impairment	1	TPRN CL E G H	286262	26894	OMIM:613307	Deafness, autosomal recessive 79			32
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011446	HP:0002463	Language impairment	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0011446	HP:0100543	Cognitive impairment	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011446	HP:0001249	Intellectual disability	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0100543	Cognitive impairment	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0002463	Language impairment	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0011446	HP:0002186	Apraxia	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0011446	HP:0002463	Language impairment	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0011446	HP:0002463	Language impairment	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011446	HP:0002463	Language impairment	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011446	HP:0002463	Language impairment	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0011446	HP:0001249	Intellectual disability	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0011446	HP:0002167	Neurological speech impairment	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011446	HP:0002463	Language impairment	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0002186	Apraxia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0002463	Language impairment	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0010524	Agnosia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		31
HP:0011446	HP:0002186	Apraxia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0011446	HP:0010524	Agnosia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		31
HP:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0002186	Apraxia	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0010524	Agnosia	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0011446	HP:0002186	Apraxia	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0011446	HP:0002463	Language impairment	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0011446	HP:0002167	Neurological speech impairment	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0011446	HP:0100543	Cognitive impairment	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0011446	HP:0010524	Agnosia	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0011446	HP:0001249	Intellectual disability	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0011446	HP:0002167	Neurological speech impairment	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0011446	HP:0001249	Intellectual disability	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0002167	Neurological speech impairment	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0002463	Language impairment	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0002167	Neurological speech impairment	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0011446	HP:0100543	Cognitive impairment	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0011446	HP:0002167	Neurological speech impairment	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0011446	HP:0002186	Apraxia	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0011446	HP:0100543	Cognitive impairment	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0011446	HP:0001249	Intellectual disability	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0011446	HP:0001249	Intellectual disability	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011446	HP:0001249	Intellectual disability	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	HP:0002463	Language impairment	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011446	HP:0002463	Language impairment	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011446	HP:0001249	Intellectual disability	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011446	HP:0002463	Language impairment	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011446	HP:0002463	Language impairment	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0011446	HP:0002463	Language impairment	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0011446	HP:0001249	Intellectual disability	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0011446	HP:0002463	Language impairment	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0011446	HP:0002167	Neurological speech impairment	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0011446	HP:0002463	Language impairment	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0011446	HP:0002167	Neurological speech impairment	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011446	HP:0002463	Language impairment	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0011446	HP:0001249	Intellectual disability	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.		7
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0011446	HP:0100543	Cognitive impairment	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001249	Intellectual disability	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0100543	Cognitive impairment	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0011446	HP:0100543	Cognitive impairment	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0100543	Cognitive impairment	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001249	Intellectual disability	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0001249	Intellectual disability	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0011446	HP:0001249	Intellectual disability	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0100543	Cognitive impairment	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0001249	Intellectual disability	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0011446	HP:0001249	Intellectual disability	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0011446	HP:0100543	Cognitive impairment	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0100543	Cognitive impairment	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0031908	Micrographia	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0100543	Cognitive impairment	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0002167	Neurological speech impairment	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011446	HP:0100543	Cognitive impairment	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0100543	Cognitive impairment	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0011446	HP:0001249	Intellectual disability	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent		171
HP:0011446	HP:0002167	Neurological speech impairment	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0011446	HP:0002463	Language impairment	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011446	HP:0002463	Language impairment	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0011446	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.		1090
HP:0011446	HP:0100543	Cognitive impairment	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.		1090
HP:0011446	HP:0100543	Cognitive impairment	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0011446	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011446	HP:0002167	Neurological speech impairment	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011446	HP:0001249	Intellectual disability	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011446	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.		2738
HP:0011446	HP:0100543	Cognitive impairment	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.		2738
HP:0011446	HP:0100543	Cognitive impairment	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0011446	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011446	HP:0002167	Neurological speech impairment	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011446	HP:0001249	Intellectual disability	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011446	HP:0001249	Intellectual disability	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.		3
HP:0011446	HP:0002167	Neurological speech impairment	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0011446	HP:0002463	Language impairment	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0011446	HP:0100543	Cognitive impairment	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0011446	HP:0001249	Intellectual disability	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0011446	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis			97
HP:0011446	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0011446	HP:0002167	Neurological speech impairment	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0011446	HP:0002463	Language impairment	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0011446	HP:0001249	Intellectual disability	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0011446	HP:0001249	Intellectual disability	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0011446	HP:0001249	Intellectual disability	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011446	HP:0002167	Neurological speech impairment	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011446	HP:0002463	Language impairment	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0011446	HP:0001249	Intellectual disability	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0011446	HP:0002167	Neurological speech impairment	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0011446	HP:0002463	Language impairment	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011446	HP:0002167	Neurological speech impairment	1	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11			57
HP:0011446	HP:0002167	Neurological speech impairment	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0011446	HP:0002167	Neurological speech impairment	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002463	Language impairment	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011446	HP:0002167	Neurological speech impairment	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0011446	HP:0002186	Apraxia	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0011446	HP:0100543	Cognitive impairment	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011446	HP:0002463	Language impairment	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011446	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0011446	HP:0002167	Neurological speech impairment	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0011446	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.		41
HP:0011446	HP:0001249	Intellectual disability	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0011446	HP:0001249	Intellectual disability	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0011446	HP:0002167	Neurological speech impairment	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011446	HP:0002463	Language impairment	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011446	HP:0002463	Language impairment	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0011446	HP:0001249	Intellectual disability	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0011446	HP:0002167	Neurological speech impairment	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0011446	HP:0002463	Language impairment	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0011446	HP:0002167	Neurological speech impairment	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0011446	HP:0100543	Cognitive impairment	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0011446	HP:0002167	Neurological speech impairment	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0100543	Cognitive impairment	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0002167	Neurological speech impairment	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0011446	HP:0100543	Cognitive impairment	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0011446	HP:0001249	Intellectual disability	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0011446	HP:0001249	Intellectual disability	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3			106
HP:0011446	HP:0002186	Apraxia	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0011446	HP:0100543	Cognitive impairment	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0011446	HP:0002463	Language impairment	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0011446	HP:0002463	Language impairment	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011446	HP:0002463	Language impairment	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011446	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0011446	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		39
HP:0011446	HP:0001249	Intellectual disability	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040282 - Frequent		39
HP:0011446	HP:0002186	Apraxia	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0011446	HP:0100543	Cognitive impairment	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040281 - Very frequent		39
HP:0011446	HP:0002186	Apraxia	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0011446	HP:0002186	Apraxia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0011446	HP:0002463	Language impairment	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0011446	HP:0001249	Intellectual disability	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0011446	HP:0002463	Language impairment	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0011446	HP:0002186	Apraxia	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant			66
HP:0011446	HP:0001249	Intellectual disability	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0011446	HP:0002463	Language impairment	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0011446	HP:0100543	Cognitive impairment	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0011446	HP:0001249	Intellectual disability	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0011446	HP:0001249	Intellectual disability	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0002167	Neurological speech impairment	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011446	HP:0100543	Cognitive impairment	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011446	HP:0002463	Language impairment	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0011446	HP:0001249	Intellectual disability	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0001249	Intellectual disability	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0011446	HP:0001249	Intellectual disability	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0011446	HP:0001249	Intellectual disability	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional		66
HP:0011446	HP:0001249	Intellectual disability	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0011446	HP:0001249	Intellectual disability	1	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7	.		76
HP:0011446	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		18
HP:0011446	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0011446	HP:0001249	Intellectual disability	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0011446	HP:0002167	Neurological speech impairment	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011446	HP:0002463	Language impairment	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011446	HP:0002463	Language impairment	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011446	HP:0001249	Intellectual disability	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0002167	Neurological speech impairment	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011446	HP:0002463	Language impairment	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0011446	HP:0100543	Cognitive impairment	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0011446	HP:0001249	Intellectual disability	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0011446	HP:0002167	Neurological speech impairment	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0011446	HP:0100543	Cognitive impairment	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0011446	HP:0002167	Neurological speech impairment	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0011446	HP:0100543	Cognitive impairment	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0011446	HP:0002167	Neurological speech impairment	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0011446	HP:0100543	Cognitive impairment	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		113
HP:0011446	HP:0001249	Intellectual disability	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0011446	HP:0001249	Intellectual disability	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0011446	HP:0001249	Intellectual disability	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		138
HP:0011446	HP:0100543	Cognitive impairment	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0011446	HP:0002167	Neurological speech impairment	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		22
HP:0011446	HP:0002186	Apraxia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0011446	HP:0100543	Cognitive impairment	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0011446	HP:0010524	Agnosia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		22
HP:0011446	HP:0002167	Neurological speech impairment	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011446	HP:0002186	Apraxia	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011446	HP:0100543	Cognitive impairment	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0011446	HP:0010524	Agnosia	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011446	HP:0002167	Neurological speech impairment	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0011446	HP:0100543	Cognitive impairment	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040284 - Very rare		35
HP:0011446	HP:0002167	Neurological speech impairment	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011446	HP:0002463	Language impairment	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011446	HP:0001249	Intellectual disability	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0011446	HP:0002167	Neurological speech impairment	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0011446	HP:0002463	Language impairment	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0100543	Cognitive impairment	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0002463	Language impairment	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0011446	HP:0002167	Neurological speech impairment	1	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24			13
HP:0011446	HP:0100543	Cognitive impairment	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011446	HP:0002167	Neurological speech impairment	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0011446	HP:0100543	Cognitive impairment	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0011446	HP:0002167	Neurological speech impairment	1	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0011446	HP:0002167	Neurological speech impairment	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011446	HP:0002463	Language impairment	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011446	HP:0001249	Intellectual disability	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0002463	Language impairment	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0001249	Intellectual disability	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011446	HP:0001249	Intellectual disability	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0011446	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent		278
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0011446	HP:0002186	Apraxia	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040282 - Frequent		278
HP:0011446	HP:0002463	Language impairment	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome			278
HP:0011446	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0002463	Language impairment	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011446	HP:0002463	Language impairment	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011446	HP:0001249	Intellectual disability	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0011446	HP:0002463	Language impairment	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0011446	HP:0001249	Intellectual disability	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0002463	Language impairment	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0001249	Intellectual disability	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0011446	HP:0002463	Language impairment	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0011446	HP:0001249	Intellectual disability	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002463	Language impairment	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011446	HP:0002167	Neurological speech impairment	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0011446	HP:0100543	Cognitive impairment	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0011446	HP:0001249	Intellectual disability	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011446	HP:0001249	Intellectual disability	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent		25
HP:0011446	HP:0001249	Intellectual disability	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011446	HP:0002463	Language impairment	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011446	HP:0001249	Intellectual disability	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0011446	HP:0100543	Cognitive impairment	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0011446	HP:0100543	Cognitive impairment	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0011446	HP:0001249	Intellectual disability	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0011446	HP:0002167	Neurological speech impairment	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0011446	HP:0002186	Apraxia	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0011446	HP:0002463	Language impairment	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0011446	HP:0001249	Intellectual disability	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002167	Neurological speech impairment	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0001249	Intellectual disability	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0011446	HP:0002167	Neurological speech impairment	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0011446	HP:0002463	Language impairment	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0011446	HP:0001249	Intellectual disability	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0002167	Neurological speech impairment	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0002463	Language impairment	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0001249	Intellectual disability	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	HP:0002167	Neurological speech impairment	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	HP:0002463	Language impairment	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	HP:0001249	Intellectual disability	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0011446	HP:0002167	Neurological speech impairment	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0011446	HP:0100543	Cognitive impairment	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0011446	HP:0002463	Language impairment	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0011446	HP:0002463	Language impairment	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0011446	HP:0001249	Intellectual disability	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011446	HP:0002167	Neurological speech impairment	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011446	HP:0002463	Language impairment	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011446	HP:0002167	Neurological speech impairment	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		5
HP:0011446	HP:0001249	Intellectual disability	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0011446	HP:0002167	Neurological speech impairment	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.		44
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0011446	HP:0001249	Intellectual disability	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002167	Neurological speech impairment	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0001249	Intellectual disability	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0011446	HP:0002167	Neurological speech impairment	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0011446	HP:0001249	Intellectual disability	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0011446	HP:0002167	Neurological speech impairment	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0011446	HP:0002463	Language impairment	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0011446	HP:0001249	Intellectual disability	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0011446	HP:0002167	Neurological speech impairment	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0011446	HP:0001249	Intellectual disability	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0100543	Cognitive impairment	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0001249	Intellectual disability	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0011446	HP:0001249	Intellectual disability	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0011446	HP:0001249	Intellectual disability	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0011446	HP:0001249	Intellectual disability	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0011446	HP:0002167	Neurological speech impairment	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0011446	HP:0002463	Language impairment	1	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0011446	HP:0001249	Intellectual disability	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional
HP:0011446	HP:0100543	Cognitive impairment	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011446	HP:0001249	Intellectual disability	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0011446	HP:0002463	Language impairment	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0011446	HP:0001249	Intellectual disability	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	HP:0002167	Neurological speech impairment	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	HP:0002186	Apraxia	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	HP:0002463	Language impairment	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	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:0011446	HP:0100543	Cognitive impairment	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011446	HP:0001249	Intellectual disability	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011446	HP:0002167	Neurological speech impairment	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011446	HP:0002463	Language impairment	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011446	HP:0001249	Intellectual disability	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0011446	HP:0002463	Language impairment	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0011446	HP:0002167	Neurological speech impairment	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0011446	HP:0100543	Cognitive impairment	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0011446	HP:0002167	Neurological speech impairment	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0011446	HP:0001249	Intellectual disability	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011446	HP:0002167	Neurological speech impairment	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011446	HP:0002167	Neurological speech impairment	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0011446	HP:0100543	Cognitive impairment	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0011446	HP:0001249	Intellectual disability	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0011446	HP:0002167	Neurological speech impairment	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011446	HP:0002463	Language impairment	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0011446	HP:0002186	Apraxia	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0011446	HP:0002463	Language impairment	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:0011446	HP:0002167	Neurological speech impairment	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0011446	HP:0002186	Apraxia	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		63
HP:0011446	HP:0100543	Cognitive impairment	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0011446	HP:0002463	Language impairment	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0011446	HP:0002167	Neurological speech impairment	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011446	HP:0002167	Neurological speech impairment	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0011446	HP:0001249	Intellectual disability	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0011446	HP:0002167	Neurological speech impairment	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0011446	HP:0002463	Language impairment	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0011446	HP:0001249	Intellectual disability	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		111
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0011446	HP:0001249	Intellectual disability	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	HP:0002463	Language impairment	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0011446	HP:0002186	Apraxia	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0011446	HP:0002463	Language impairment	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0011446	HP:0100543	Cognitive impairment	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0011446	HP:0100543	Cognitive impairment	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0011446	HP:0031908	Micrographia	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0011446	HP:0001249	Intellectual disability	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0011446	HP:0001249	Intellectual disability	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0011446	HP:0100543	Cognitive impairment	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset			8
HP:0011446	HP:0100543	Cognitive impairment	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0011446	HP:0001249	Intellectual disability	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0011446	HP:0001249	Intellectual disability	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011446	HP:0002463	Language impairment	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011446	HP:0002463	Language impairment	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011446	HP:0100543	Cognitive impairment	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0011446	HP:0001249	Intellectual disability	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0011446	HP:0002463	Language impairment	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011446	HP:0100543	Cognitive impairment	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011446	HP:0002463	Language impairment	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0011446	HP:0001249	Intellectual disability	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0011446	HP:0001249	Intellectual disability	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0002463	Language impairment	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0001249	Intellectual disability	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0002167	Neurological speech impairment	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0002463	Language impairment	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0001249	Intellectual disability	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0011446	HP:0001249	Intellectual disability	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0011446	HP:0001249	Intellectual disability	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.		1
HP:0011446	HP:0002167	Neurological speech impairment	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0011446	HP:0002167	Neurological speech impairment	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011446	HP:0002463	Language impairment	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011446	HP:0002463	Language impairment	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	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:0011446	HP:0002463	Language impairment	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:0011446	HP:0001249	Intellectual disability	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0011446	HP:0002167	Neurological speech impairment	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0011446	HP:0002463	Language impairment	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0011446	HP:0002463	Language impairment	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0011446	HP:0001249	Intellectual disability	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011446	HP:0002167	Neurological speech impairment	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011446	HP:0002463	Language impairment	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011446	HP:0001249	Intellectual disability	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43	.		25
HP:0011446	HP:0002167	Neurological speech impairment	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011446	HP:0002463	Language impairment	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011446	HP:0001249	Intellectual disability	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		83
HP:0011446	HP:0002167	Neurological speech impairment	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent		83
HP:0011446	HP:0001249	Intellectual disability	1	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant			6
HP:0011446	HP:0001249	Intellectual disability	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0011446	HP:0002167	Neurological speech impairment	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0011446	HP:0001249	Intellectual disability	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional		10
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011446	HP:0002463	Language impairment	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011446	HP:0002463	Language impairment	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0002463	Language impairment	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0100543	Cognitive impairment	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001249	Intellectual disability	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011446	HP:0002463	Language impairment	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0011446	HP:0002463	Language impairment	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0011446	HP:0001249	Intellectual disability	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0011446	HP:0100543	Cognitive impairment	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0011446	HP:0001249	Intellectual disability	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0011446	HP:0100543	Cognitive impairment	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0011446	HP:0002463	Language impairment	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0011446	HP:0002463	Language impairment	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0011446	HP:0001249	Intellectual disability	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0011446	HP:0001249	Intellectual disability	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0011446	HP:0002463	Language impairment	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0011446	HP:0001249	Intellectual disability	1	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		14
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome			14
HP:0011446	HP:0100543	Cognitive impairment	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0011446	HP:0001249	Intellectual disability	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011446	HP:0002463	Language impairment	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011446	HP:0001249	Intellectual disability	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011446	HP:0002167	Neurological speech impairment	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011446	HP:0002463	Language impairment	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0011446	HP:0001249	Intellectual disability	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		27
HP:0011446	HP:0001249	Intellectual disability	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0011446	HP:0002167	Neurological speech impairment	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0011446	HP:0100543	Cognitive impairment	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0011446	HP:0001249	Intellectual disability	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0011446	HP:0002167	Neurological speech impairment	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0011446	HP:0100543	Cognitive impairment	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0011446	HP:0002463	Language impairment	1	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0011446	HP:0001249	Intellectual disability	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011446	HP:0002167	Neurological speech impairment	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011446	HP:0002463	Language impairment	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011446	HP:0001249	Intellectual disability	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011446	HP:0001249	Intellectual disability	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0011446	HP:0001249	Intellectual disability	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0011446	HP:0002463	Language impairment	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0011446	HP:0100543	Cognitive impairment	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0011446	HP:0002463	Language impairment	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0011446	HP:0001249	Intellectual disability	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0011446	HP:0002167	Neurological speech impairment	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0011446	HP:0002167	Neurological speech impairment	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0011446	HP:0001249	Intellectual disability	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011446	HP:0100543	Cognitive impairment	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0011446	HP:0001249	Intellectual disability	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0011446	HP:0100543	Cognitive impairment	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0011446	HP:0001249	Intellectual disability	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011446	HP:0100543	Cognitive impairment	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0011446	HP:0001249	Intellectual disability	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0011446	HP:0002167	Neurological speech impairment	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6			4
HP:0011446	HP:0100543	Cognitive impairment	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0011446	HP:0002167	Neurological speech impairment	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0011446	HP:0002186	Apraxia	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0011446	HP:0001249	Intellectual disability	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0011446	HP:0001249	Intellectual disability	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent		9
HP:0011446	HP:0002167	Neurological speech impairment	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011446	HP:0002186	Apraxia	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011446	HP:0100543	Cognitive impairment	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0011446	HP:0002463	Language impairment	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011446	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011446	HP:0002167	Neurological speech impairment	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011446	HP:0002463	Language impairment	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0011446	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent		14
HP:0011446	HP:0001249	Intellectual disability	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0011446	HP:0001249	Intellectual disability	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0011446	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:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0011446	HP:0002463	Language impairment	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0011446	HP:0001249	Intellectual disability	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0011446	HP:0001249	Intellectual disability	1	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0011446	HP:0002167	Neurological speech impairment	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011446	HP:0002463	Language impairment	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011446	HP:0001249	Intellectual disability	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0011446	HP:0002167	Neurological speech impairment	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0011446	HP:0002463	Language impairment	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0011446	HP:0001249	Intellectual disability	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0011446	HP:0001249	Intellectual disability	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011446	HP:0002167	Neurological speech impairment	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0100543	Cognitive impairment	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0002463	Language impairment	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011446	HP:0001249	Intellectual disability	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0011446	HP:0001249	Intellectual disability	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011446	HP:0002167	Neurological speech impairment	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011446	HP:0002463	Language impairment	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0011446	HP:0002463	Language impairment	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011446	HP:0100543	Cognitive impairment	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0011446	HP:0001249	Intellectual disability	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.		5
HP:0011446	HP:0001249	Intellectual disability	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0011446	HP:0001249	Intellectual disability	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0002167	Neurological speech impairment	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0002463	Language impairment	1	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0001249	Intellectual disability	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0011446	HP:0001249	Intellectual disability	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0011446	HP:0002167	Neurological speech impairment	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011446	HP:0002463	Language impairment	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011446	HP:0002167	Neurological speech impairment	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011446	HP:0002463	Language impairment	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011446	HP:0001249	Intellectual disability	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0011446	HP:0001249	Intellectual disability	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011446	HP:0002463	Language impairment	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011446	HP:0001249	Intellectual disability	1	ZC3H14 CL E G H	79882	20509	OMIM:617125	Mental retardation, autosomal recessive 56	.		24
HP:0011446	HP:0001249	Intellectual disability	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0011446	HP:0002186	Apraxia	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0011446	HP:0001249	Intellectual disability	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011446	HP:0002186	Apraxia	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011446	HP:0002463	Language impairment	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0011446	HP:0002167	Neurological speech impairment	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0002186	Apraxia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0002463	Language impairment	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0001249	Intellectual disability	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0002167	Neurological speech impairment	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	HP:0002167	Neurological speech impairment	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	HP:0002463	Language impairment	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011446	HP:0002463	Language impairment	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011446	HP:0002463	Language impairment	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0011446	HP:0001249	Intellectual disability	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0011446	HP:0100543	Cognitive impairment	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0011446	HP:0001249	Intellectual disability	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0011446	HP:0002167	Neurological speech impairment	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0011446	HP:0001249	Intellectual disability	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040283 - Occasional		5
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0002186	Apraxia	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0002463	Language impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.		34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0002186	Apraxia	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0002463	Language impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0002186	Apraxia	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0002463	Language impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0002186	Apraxia	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0002463	Language impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0001249	Intellectual disability	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011446	HP:0002463	Language impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011446	HP:0002463	Language impairment	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011446	HP:0002463	Language impairment	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011446	HP:0002167	Neurological speech impairment	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	HP:0002463	Language impairment	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0011446	HP:0001249	Intellectual disability	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0011446	HP:0002167	Neurological speech impairment	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011446	HP:0002463	Language impairment	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0011446	HP:0002167	Neurological speech impairment	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0011446	HP:0002463	Language impairment	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0011446	HP:0001249	Intellectual disability	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011446	HP:0002167	Neurological speech impairment	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011446	HP:0002463	Language impairment	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011446	HP:0100543	Cognitive impairment	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZNF365 CL E G H	22891	18194	ORPHA:83465	Narcolepsy type 2			3
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011446	HP:0002463	Language impairment	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0011446	HP:0001249	Intellectual disability	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0011446	HP:0001249	Intellectual disability	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0011446	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:0011446	HP:0001249	Intellectual disability	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0002167	Neurological speech impairment	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0002463	Language impairment	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0001249	Intellectual disability	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0011446	HP:0001249	Intellectual disability	1	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0002167	Neurological speech impairment	1	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome			4
HP:0011446	HP:0001249	Intellectual disability	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011446	HP:0001249	Intellectual disability	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011446	HP:0002167	Neurological speech impairment	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011446	HP:0002463	Language impairment	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011446	HP:0001249	Intellectual disability	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0011446	HP:0004372	Reduced consciousness/confusion	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0011446	HP:0001249	Intellectual disability	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0011446	HP:0001249	Intellectual disability	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent		5
HP:0011446	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:0011446	HP:0002167	Neurological speech impairment	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011446	HP:0002463	Language impairment	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0011446	HP:0002526	Deficit in nonword repetition	2	CL E G H
HP:0011446	HP:0007200	Episodic hypersomnia	2	CL E G H
HP:0011446	HP:0033630	Brain fog	2	CL E G H
HP:0011446	HP:0033844	Tachyphrenia	2	CL E G H
HP:0011446	HP:0001260	Dysarthria	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0011446	HP:0001268	Mental deterioration	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	HP:0031358	Vegetative state	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0011446	HP:0001268	Mental deterioration	2	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0011446	HP:0002371	Loss of speech	2	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0011446	HP:0000750	Delayed speech and language development	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0011446	HP:0006889	Intellectual disability, borderline	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0011446	HP:0000750	Delayed speech and language development	2	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0011446	HP:0001256	Intellectual disability, mild	2	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.		15
HP:0011446	HP:0001256	Intellectual disability, mild	2	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0011446	HP:0001268	Mental deterioration	2	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0011446	HP:0001254	Lethargy	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	HP:0002354	Memory impairment	2	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.		3
HP:0011446	HP:0000657	Oculomotor apraxia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0001268	Mental deterioration	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0001289	Confusion	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0002354	Memory impairment	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0002381	Aphasia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0010525	Finger agnosia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0010526	Dysgraphia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0001260	Dysarthria	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0011446	HP:0001254	Lethargy	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0011446	HP:0001259	Coma	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0011446	HP:0002329	Drowsiness	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0011446	HP:0007185	Loss of consciousness	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0011446	HP:0001259	Coma	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0011446	HP:0001259	Coma	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0011446	HP:0002329	Drowsiness	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0011446	HP:0001259	Coma	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0011446	HP:0001256	Intellectual disability, mild	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0011446	HP:0001268	Mental deterioration	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0011446	HP:0002371	Loss of speech	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0011446	HP:0001260	Dysarthria	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0011446	HP:0002354	Memory impairment	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional		135
HP:0011446	HP:0000657	Oculomotor apraxia	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0001260	Dysarthria	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0001268	Mental deterioration	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent		135
HP:0011446	HP:0001289	Confusion	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0002354	Memory impairment	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0010527	Astereognosia	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0030222	Visual agnosia	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011446	HP:0031358	Vegetative state	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040284 - Very rare		135
HP:0011446	HP:0001254	Lethargy	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0011446	HP:0001260	Dysarthria	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0011446	HP:0000750	Delayed speech and language development	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0011446	HP:0001259	Coma	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0011446	HP:0001259	Coma	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0011446	HP:0007185	Loss of consciousness	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0011446	HP:0001254	Lethargy	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0011446	HP:0001254	Lethargy	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0011446	HP:0001254	Lethargy	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0011446	HP:0001256	Intellectual disability, mild	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040284 - Very rare		91
HP:0011446	HP:0001259	Coma	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0011446	HP:0001262	Excessive daytime somnolence	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0011446	HP:0010864	Intellectual disability, severe	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040284 - Very rare		91
HP:0011446	HP:0000750	Delayed speech and language development	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0011446	HP:0001260	Dysarthria	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0011446	HP:0000750	Delayed speech and language development	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0011446	HP:0006887	Intellectual disability, progressive	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0011446	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:0011446	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:0011446	HP:0002300	Mutism	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0002381	Aphasia	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0010529	Echolalia	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0001268	Mental deterioration	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0001256	Intellectual disability, mild	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0011446	HP:0001260	Dysarthria	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0001618	Dysphonia	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0002300	Mutism	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011446	HP:0002381	Aphasia	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011446	HP:0010529	Echolalia	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	HP:0040284 - Very rare		49
HP:0011446	HP:0001254	Lethargy	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0011446	HP:0001260	Dysarthria	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011446	HP:0001268	Mental deterioration	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0011446	HP:0001268	Mental deterioration	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.		22
HP:0011446	HP:0002354	Memory impairment	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent		22
HP:0011446	HP:0002381	Aphasia	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040283 - Occasional		22
HP:0011446	HP:0002381	Aphasia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011446	HP:0002187	Intellectual disability, profound	2	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0011446	HP:0001256	Intellectual disability, mild	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0011446	HP:0001256	Intellectual disability, mild	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0011446	HP:0001289	Confusion	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0011446	HP:0002300	Mutism	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0011446	HP:0002381	Aphasia	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0011446	HP:0010529	Echolalia	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0011446	HP:0002300	Mutism	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0002381	Aphasia	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0010529	Echolalia	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0011446	HP:0002187	Intellectual disability, profound	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		116
HP:0011446	HP:0002371	Loss of speech	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0011446	HP:0002371	Loss of speech	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	.		116
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0011446	HP:0001260	Dysarthria	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.		25
HP:0011446	HP:0001260	Dysarthria	2	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent		25
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0011446	HP:0001260	Dysarthria	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0011446	HP:0010864	Intellectual disability, severe	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0011446	HP:0001618	Dysphonia	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0011446	HP:0007301	Oromotor apraxia	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0011446	HP:0000750	Delayed speech and language development	2	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0011446	HP:0001260	Dysarthria	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0011446	HP:0001268	Mental deterioration	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0011446	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:0011446	HP:0007185	Loss of consciousness	2	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent		1
HP:0011446	HP:0001260	Dysarthria	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0011446	HP:0002465	Poor speech	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0011446	HP:0000750	Delayed speech and language development	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0011446	HP:0000750	Delayed speech and language development	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0011446	HP:0000657	Oculomotor apraxia	2	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0011446	HP:0001260	Dysarthria	2	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0011446	HP:0001260	Dysarthria	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0011446	HP:0001260	Dysarthria	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent		86
HP:0011446	HP:0002354	Memory impairment	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040284 - Very rare		86
HP:0011446	HP:0000750	Delayed speech and language development	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0011446	HP:0000750	Delayed speech and language development	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent		76
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0002329	Drowsiness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0011446	HP:0001618	Dysphonia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0011446	HP:0000657	Oculomotor apraxia	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0011446	HP:0000657	Oculomotor apraxia	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0011446	HP:0000657	Oculomotor apraxia	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0011446	HP:0006887	Intellectual disability, progressive	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.		5
HP:0011446	HP:0010864	Intellectual disability, severe	2	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.		5
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0011446	HP:0000750	Delayed speech and language development	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0011446	HP:0002187	Intellectual disability, profound	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0011446	HP:0002329	Drowsiness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0011446	HP:0001256	Intellectual disability, mild	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011446	HP:0001262	Excessive daytime somnolence	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0011446	HP:0002354	Memory impairment	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0011446	HP:0002342	Intellectual disability, moderate	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0011446	HP:0001259	Coma	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0011446	HP:0010864	Intellectual disability, severe	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0011446	HP:0001289	Confusion	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0011446	HP:0007159	Fluctuations in consciousness	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0011446	HP:0001260	Dysarthria	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0011446	HP:0001268	Mental deterioration	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0011446	HP:0002354	Memory impairment	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0011446	HP:0002425	Anarthria	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0011446	HP:0001260	Dysarthria	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0011446	HP:0001268	Mental deterioration	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0011446	HP:0002371	Loss of speech	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0011446	HP:0001260	Dysarthria	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0011446	HP:0000750	Delayed speech and language development	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0011446	HP:0001260	Dysarthria	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0011446	HP:0001618	Dysphonia	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0011446	HP:0001260	Dysarthria	2	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent		87
HP:0011446	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:0011446	HP:0001289	Confusion	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0011446	HP:0000750	Delayed speech and language development	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0011446	HP:0000750	Delayed speech and language development	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0011446	HP:0001259	Coma	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0011446	HP:0001254	Lethargy	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040284 - Very rare		73
HP:0011446	HP:0001259	Coma	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040284 - Very rare		73
HP:0011446	HP:0001256	Intellectual disability, mild	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0011446	HP:0000750	Delayed speech and language development	2	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0011446	HP:0010864	Intellectual disability, severe	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011446	HP:0002465	Poor speech	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0011446	HP:0000750	Delayed speech and language development	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0011446	HP:0006889	Intellectual disability, borderline	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			75
HP:0011446	HP:0006889	Intellectual disability, borderline	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2			63
HP:0011446	HP:0001260	Dysarthria	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0011446	HP:0002425	Anarthria	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0011446	HP:0001260	Dysarthria	2	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent		114
HP:0011446	HP:0002425	Anarthria	2	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent		114
HP:0011446	HP:0002425	Anarthria	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0011446	HP:0001260	Dysarthria	2	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0011446	HP:0002371	Loss of speech	2	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		114
HP:0011446	HP:0001260	Dysarthria	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0011446	HP:0001618	Dysphonia	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0011446	HP:0001260	Dysarthria	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0011446	HP:0002425	Anarthria	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.		44
HP:0011446	HP:0001268	Mental deterioration	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0011446	HP:0002354	Memory impairment	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0011446	HP:0000750	Delayed speech and language development	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0011446	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:0011446	HP:0002300	Mutism	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0002381	Aphasia	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0010529	Echolalia	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0011446	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:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0011446	HP:0000750	Delayed speech and language development	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0011446	HP:0001260	Dysarthria	2	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.		64
HP:0011446	HP:0001260	Dysarthria	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0011446	HP:0001260	Dysarthria	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011446	HP:0000750	Delayed speech and language development	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011446	HP:0000750	Delayed speech and language development	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0011446	HP:0002342	Intellectual disability, moderate	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0002465	Poor speech	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0010864	Intellectual disability, severe	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0011446	HP:0001260	Dysarthria	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0011446	HP:0002465	Poor speech	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0011446	HP:0001260	Dysarthria	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0011446	HP:0010864	Intellectual disability, severe	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0011446	HP:0001260	Dysarthria	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0011446	HP:0002465	Poor speech	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0011446	HP:0025268	Stuttering	2	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1	.		48
HP:0011446	HP:0001260	Dysarthria	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0011446	HP:0002465	Poor speech	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0011446	HP:0010864	Intellectual disability, severe	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0011446	HP:0001260	Dysarthria	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0011446	HP:0002465	Poor speech	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0011446	HP:0001268	Mental deterioration	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0000750	Delayed speech and language development	2	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0011446	HP:0002465	Poor speech	2	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.		1
HP:0011446	HP:0001268	Mental deterioration	2	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2			39
HP:0011446	HP:0001260	Dysarthria	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0011446	HP:0001268	Mental deterioration	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0011446	HP:0002354	Memory impairment	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0011446	HP:0001268	Mental deterioration	2	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0002354	Memory impairment	2	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0001268	Mental deterioration	2	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0001268	Mental deterioration	2	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent		74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type			74
HP:0011446	HP:0002354	Memory impairment	2	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0011446	HP:0001259	Coma	2	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0011446	HP:0001259	Coma	2	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	OMIM:104300	Alzheimer disease			74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related			74
HP:0011446	HP:0000657	Oculomotor apraxia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0001268	Mental deterioration	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0001289	Confusion	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0011446	HP:0002354	Memory impairment	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0011446	HP:0002381	Aphasia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0010525	Finger agnosia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0010526	Dysgraphia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0000657	Oculomotor apraxia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0011446	HP:0001260	Dysarthria	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0011446	HP:0001268	Mental deterioration	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	HP:0040283 - Occasional		61
HP:0011446	HP:0001260	Dysarthria	2	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent		125
HP:0011446	HP:0001618	Dysphonia	2	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent		125
HP:0011446	HP:0001260	Dysarthria	2	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0011446	HP:0000750	Delayed speech and language development	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0011446	HP:0000750	Delayed speech and language development	2	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040281 - Very frequent		31
HP:0011446	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:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.		45
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.		45
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0011446	HP:0001256	Intellectual disability, mild	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0011446	HP:0000750	Delayed speech and language development	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0011446	HP:0000657	Oculomotor apraxia	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0011446	HP:0000657	Oculomotor apraxia	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0000750	Delayed speech and language development	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0000657	Oculomotor apraxia	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0000657	Oculomotor apraxia	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0011446	HP:0000750	Delayed speech and language development	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0011446	HP:0002354	Memory impairment	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011446	HP:0000657	Oculomotor apraxia	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0011446	HP:0000750	Delayed speech and language development	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0001256	Intellectual disability, mild	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011446	HP:0001260	Dysarthria	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0011446	HP:0001268	Mental deterioration	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0011446	HP:0002371	Loss of speech	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0011446	HP:0001260	Dysarthria	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0011446	HP:0001268	Mental deterioration	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0002354	Memory impairment	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0011446	HP:0002371	Loss of speech	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0011446	HP:0031358	Vegetative state	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		253
HP:0011446	HP:0001260	Dysarthria	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0011446	HP:0001268	Mental deterioration	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0002371	Loss of speech	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0011446	HP:0031358	Vegetative state	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040284 - Very rare		253
HP:0011446	HP:0001260	Dysarthria	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0011446	HP:0002371	Loss of speech	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0011446	HP:0031358	Vegetative state	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040284 - Very rare		253
HP:0011446	HP:0002187	Intellectual disability, profound	2	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.		3
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011446	HP:0001256	Intellectual disability, mild	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0002381	Aphasia	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011446	HP:0010864	Intellectual disability, severe	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.		166
HP:0011446	HP:0000750	Delayed speech and language development	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional		166
HP:0011446	HP:0001256	Intellectual disability, mild	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent		166
HP:0011446	HP:0001260	Dysarthria	2	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0011446	HP:0001260	Dysarthria	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent		166
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent		166
HP:0011446	HP:0001618	Dysphonia	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0011446	HP:0002300	Mutism	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0011446	HP:0001268	Mental deterioration	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0011446	HP:0001268	Mental deterioration	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0011446	HP:0000750	Delayed speech and language development	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0011446	HP:0001254	Lethargy	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011446	HP:0001259	Coma	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent		48
HP:0011446	HP:0000750	Delayed speech and language development	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011446	HP:0001254	Lethargy	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0011446	HP:0001254	Lethargy	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0011446	HP:0001259	Coma	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0011446	HP:0000750	Delayed speech and language development	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0002187	Intellectual disability, profound	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011446	HP:0002187	Intellectual disability, profound	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011446	HP:0010864	Intellectual disability, severe	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011446	HP:0000750	Delayed speech and language development	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0011446	HP:0000750	Delayed speech and language development	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011446	HP:0002187	Intellectual disability, profound	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0011446	HP:0010864	Intellectual disability, severe	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0011446	HP:0000750	Delayed speech and language development	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0000750	Delayed speech and language development	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0011446	HP:0002465	Poor speech	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0001260	Dysarthria	2	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.		72
HP:0011446	HP:0001260	Dysarthria	2	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent		72
HP:0011446	HP:0001260	Dysarthria	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0011446	HP:0002187	Intellectual disability, profound	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0011446	HP:0001260	Dysarthria	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare		71
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011446	HP:0001260	Dysarthria	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040282 - Frequent		3267
HP:0011446	HP:0001260	Dysarthria	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0011446	HP:0001268	Mental deterioration	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0011446	HP:0002354	Memory impairment	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040283 - Occasional		16
HP:0011446	HP:0001268	Mental deterioration	2	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:0011446	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:0011446	HP:0002465	Poor speech	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		4
HP:0011446	HP:0001260	Dysarthria	2	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional		100
HP:0011446	HP:0001260	Dysarthria	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0011446	HP:0001268	Mental deterioration	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0011446	HP:0000658	Eyelid apraxia	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0011446	HP:0001254	Lethargy	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0011446	HP:0001256	Intellectual disability, mild	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0001260	Dysarthria	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0001260	Dysarthria	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0011446	HP:0001268	Mental deterioration	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0011446	HP:0001268	Mental deterioration	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0001289	Confusion	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0011446	HP:0002425	Anarthria	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0011446	HP:0002425	Anarthria	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.		100
HP:0011446	HP:0001260	Dysarthria	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0001268	Mental deterioration	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0002465	Poor speech	2	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent		4
HP:0011446	HP:0000657	Oculomotor apraxia	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0011446	HP:0001268	Mental deterioration	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0011446	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:0011446	HP:0001259	Coma	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0011446	HP:0001260	Dysarthria	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0011446	HP:0001289	Confusion	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0011446	HP:0002381	Aphasia	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0011446	HP:0032044	Decreased vigilance	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0011446	HP:0001259	Coma	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	HP:0001260	Dysarthria	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	HP:0001289	Confusion	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	HP:0002329	Drowsiness	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	HP:0002381	Aphasia	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0011446	HP:0000657	Oculomotor apraxia	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0011446	HP:0001268	Mental deterioration	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0011446	HP:0001260	Dysarthria	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0011446	HP:0001268	Mental deterioration	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0011446	HP:0001260	Dysarthria	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0011446	HP:0001260	Dysarthria	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.		150
HP:0011446	HP:0002300	Mutism	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.		150
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0011446	HP:0001260	Dysarthria	2	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent		150
HP:0011446	HP:0002300	Mutism	2	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent		150
HP:0011446	HP:0001256	Intellectual disability, mild	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011446	HP:0001260	Dysarthria	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0011446	HP:0001260	Dysarthria	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0011446	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:0011446	HP:0001254	Lethargy	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0011446	HP:0001618	Dysphonia	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0011446	HP:0001254	Lethargy	2	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0011446	HP:0001268	Mental deterioration	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0011446	HP:0010864	Intellectual disability, severe	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001268	Mental deterioration	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0011446	HP:0001256	Intellectual disability, mild	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0011446	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:0011446	HP:0010527	Astereognosia	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0011446	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:0011446	HP:0010527	Astereognosia	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0011446	HP:0010529	Echolalia	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0011446	HP:0000750	Delayed speech and language development	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011446	HP:0002465	Poor speech	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011446	HP:0001259	Coma	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0011446	HP:0001260	Dysarthria	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0011446	HP:0001260	Dysarthria	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0011446	HP:0001268	Mental deterioration	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011446	HP:0001260	Dysarthria	2	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.		24
HP:0011446	HP:0002381	Aphasia	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0011446	HP:0001268	Mental deterioration	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011446	HP:0002354	Memory impairment	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0011446	HP:0002168	Scanning speech	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0011446	HP:0001260	Dysarthria	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0011446	HP:0002354	Memory impairment	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0011446	HP:0001260	Dysarthria	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0011446	HP:0001268	Mental deterioration	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0011446	HP:0002168	Scanning speech	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0011446	HP:0001260	Dysarthria	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040281 - Very frequent		9
HP:0011446	HP:0002168	Scanning speech	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0011446	HP:0001260	Dysarthria	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0011446	HP:0001268	Mental deterioration	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0011446	HP:0000657	Oculomotor apraxia	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0011446	HP:0001260	Dysarthria	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0011446	HP:0001268	Mental deterioration	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0011446	HP:0001260	Dysarthria	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0011446	HP:0001268	Mental deterioration	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0011446	HP:0001260	Dysarthria	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0011446	HP:0001268	Mental deterioration	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0011446	HP:0002354	Memory impairment	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional		14
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0011446	HP:0002354	Memory impairment	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional		14
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0011446	HP:0002354	Memory impairment	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional		14
HP:0011446	HP:0001260	Dysarthria	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0011446	HP:0001268	Mental deterioration	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0011446	HP:0001260	Dysarthria	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate		8
HP:0011446	HP:0001268	Mental deterioration	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0011446	HP:0001260	Dysarthria	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0011446	HP:0001260	Dysarthria	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	HP:0001260	Dysarthria	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0001268	Mental deterioration	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	HP:0001260	Dysarthria	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0011446	HP:0001260	Dysarthria	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0011446	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:0011446	HP:0001259	Coma	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0011446	HP:0000750	Delayed speech and language development	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	HP:0001260	Dysarthria	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0011446	HP:0001268	Mental deterioration	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011446	HP:0001254	Lethargy	2	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent		22
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011446	HP:0001260	Dysarthria	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0011446	HP:0001618	Dysphonia	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0011446	HP:0001256	Intellectual disability, mild	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0011446	HP:0001260	Dysarthria	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0011446	HP:0000657	Oculomotor apraxia	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0011446	HP:0000657	Oculomotor apraxia	2	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0011446	HP:0000657	Oculomotor apraxia	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0000750	Delayed speech and language development	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011446	HP:0001262	Excessive daytime somnolence	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0011446	HP:0002354	Memory impairment	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0011446	HP:0001260	Dysarthria	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0011446	HP:0000750	Delayed speech and language development	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0011446	HP:0010864	Intellectual disability, severe	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0011446	HP:0000750	Delayed speech and language development	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0010864	Intellectual disability, severe	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0001254	Lethargy	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0011446	HP:0001259	Coma	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0011446	HP:0001254	Lethargy	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0011446	HP:0001259	Coma	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0011446	HP:0000750	Delayed speech and language development	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0011446	HP:0000750	Delayed speech and language development	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0011446	HP:0010864	Intellectual disability, severe	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0011446	HP:0000657	Oculomotor apraxia	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0001260	Dysarthria	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.		1
HP:0011446	HP:0001260	Dysarthria	2	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0011446	HP:0001260	Dysarthria	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0011446	HP:0001618	Dysphonia	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0011446	HP:0001256	Intellectual disability, mild	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional		99
HP:0011446	HP:0001260	Dysarthria	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0011446	HP:0001618	Dysphonia	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0011446	HP:0001256	Intellectual disability, mild	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	HP:0040283 - Occasional		314
HP:0011446	HP:0000657	Oculomotor apraxia	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0011446	HP:0000750	Delayed speech and language development	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0011446	HP:0001254	Lethargy	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011446	HP:0002354	Memory impairment	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011446	HP:0010526	Dysgraphia	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011446	HP:0001256	Intellectual disability, mild	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0011446	HP:0000750	Delayed speech and language development	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D			90
HP:0011446	HP:0001254	Lethargy	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare		22
HP:0011446	HP:0001254	Lethargy	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0011446	HP:0000657	Oculomotor apraxia	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0011446	HP:0001259	Coma	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0011446	HP:0001262	Excessive daytime somnolence	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0011446	HP:0001268	Mental deterioration	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011446	HP:0002354	Memory impairment	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0011446	HP:0010864	Intellectual disability, severe	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0002465	Poor speech	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0010864	Intellectual disability, severe	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0000750	Delayed speech and language development	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0011446	HP:0002371	Loss of speech	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0011446	HP:0001256	Intellectual disability, mild	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011446	HP:0001254	Lethargy	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0011446	HP:0001254	Lethargy	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0011446	HP:0000750	Delayed speech and language development	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0011446	HP:0002187	Intellectual disability, profound	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0011446	HP:0001260	Dysarthria	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0011446	HP:0001256	Intellectual disability, mild	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0011446	HP:0001260	Dysarthria	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent		114
HP:0011446	HP:0001268	Mental deterioration	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent		114
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0011446	HP:0001268	Mental deterioration	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0011446	HP:0001260	Dysarthria	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0011446	HP:0000750	Delayed speech and language development	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0011446	HP:0010864	Intellectual disability, severe	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0011446	HP:0001289	Confusion	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0011446	HP:0002354	Memory impairment	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0011446	HP:0001268	Mental deterioration	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0011446	HP:0001268	Mental deterioration	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002300	Mutism	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		56
HP:0011446	HP:0002354	Memory impairment	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002371	Loss of speech	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002381	Aphasia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0011446	HP:0002465	Poor speech	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0010526	Dysgraphia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0010529	Echolalia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0001260	Dysarthria	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0011446	HP:0001268	Mental deterioration	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0011446	HP:0002300	Mutism	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0011446	HP:0002354	Memory impairment	2	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040282 - Frequent		56
HP:0011446	HP:0001268	Mental deterioration	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002300	Mutism	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		56
HP:0011446	HP:0002354	Memory impairment	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002381	Aphasia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0010523	Alexia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		56
HP:0011446	HP:0010526	Dysgraphia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		56
HP:0011446	HP:0030391	Spoken word recognition deficit	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0001268	Mental deterioration	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0011446	HP:0002381	Aphasia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0010523	Alexia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0011446	HP:0010526	Dysgraphia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0011446	HP:0030222	Visual agnosia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0010864	Intellectual disability, severe	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0011446	HP:0001254	Lethargy	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0011446	HP:0001256	Intellectual disability, mild	2	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.		8
HP:0011446	HP:0001260	Dysarthria	2	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.		8
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0011446	HP:0001268	Mental deterioration	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0011446	HP:0002329	Drowsiness	2	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent		449
HP:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0011446	HP:0001259	Coma	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0011446	HP:0001289	Confusion	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0011446	HP:0002381	Aphasia	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0011446	HP:0032044	Decreased vigilance	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040282 - Frequent		449
HP:0011446	HP:0001268	Mental deterioration	2	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0011446	HP:0001259	Coma	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0011446	HP:0001289	Confusion	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0011446	HP:0002329	Drowsiness	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0011446	HP:0002381	Aphasia	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0011446	HP:0001260	Dysarthria	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040283 - Occasional		449
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0011446	HP:0000750	Delayed speech and language development	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0011446	HP:0001260	Dysarthria	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0011446	HP:0000657	Oculomotor apraxia	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0011446	HP:0001260	Dysarthria	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040281 - Very frequent		32
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0011446	HP:0001260	Dysarthria	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0011446	HP:0001260	Dysarthria	2	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent		146
HP:0011446	HP:0001260	Dysarthria	2	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.		146
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10	.		5
HP:0011446	HP:0002465	Poor speech	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0011446	HP:0000750	Delayed speech and language development	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011446	HP:0000750	Delayed speech and language development	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63	.		1
HP:0011446	HP:0000750	Delayed speech and language development	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011446	HP:0000750	Delayed speech and language development	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0002465	Poor speech	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0011446	HP:0001260	Dysarthria	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0011446	HP:0002354	Memory impairment	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0011446	HP:0001260	Dysarthria	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent		4
HP:0011446	HP:0001260	Dysarthria	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0011446	HP:0001618	Dysphonia	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0001260	Dysarthria	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011446	HP:0001260	Dysarthria	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001260	Dysarthria	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0000750	Delayed speech and language development	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0002546	Incomprehensible speech	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3	.		57
HP:0011446	HP:0010864	Intellectual disability, severe	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0011446	HP:0000657	Oculomotor apraxia	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0011446	HP:0000657	Oculomotor apraxia	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0011446	HP:0000657	Oculomotor apraxia	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0011446	HP:0002465	Poor speech	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0011446	HP:0000750	Delayed speech and language development	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0011446	HP:0002187	Intellectual disability, profound	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0011446	HP:0001260	Dysarthria	2	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.		54
HP:0011446	HP:0001260	Dysarthria	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent		54
HP:0011446	HP:0002168	Scanning speech	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent		54
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	HP:0001268	Mental deterioration	2	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	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:0011446	HP:0001289	Confusion	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011446	HP:0010864	Intellectual disability, severe	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011446	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:0011446	HP:0002465	Poor speech	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0000750	Delayed speech and language development	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011446	HP:0001268	Mental deterioration	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011446	HP:0002354	Memory impairment	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011446	HP:0000750	Delayed speech and language development	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.		181
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.		6
HP:0011446	HP:0001256	Intellectual disability, mild	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0011446	HP:0002300	Mutism	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0011446	HP:0002371	Loss of speech	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0011446	HP:0032588	Hand apraxia	2	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0011446	HP:0002187	Intellectual disability, profound	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.		405
HP:0011446	HP:0001254	Lethargy	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011446	HP:0001259	Coma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		2
HP:0011446	HP:0001289	Confusion	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011446	HP:0032044	Decreased vigilance	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011446	HP:0001254	Lethargy	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011446	HP:0001259	Coma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		102
HP:0011446	HP:0001289	Confusion	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011446	HP:0032044	Decreased vigilance	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011446	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:0011446	HP:0001254	Lethargy	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011446	HP:0001259	Coma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		1
HP:0011446	HP:0001289	Confusion	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011446	HP:0032044	Decreased vigilance	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011446	HP:0001254	Lethargy	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011446	HP:0001259	Coma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0011446	HP:0001289	Confusion	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011446	HP:0032044	Decreased vigilance	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011446	HP:0001254	Lethargy	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002465	Poor speech	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011446	HP:0007301	Oromotor apraxia	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011446	HP:0001254	Lethargy	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011446	HP:0002465	Poor speech	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0007301	Oromotor apraxia	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011446	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011446	HP:0001254	Lethargy	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002465	Poor speech	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0011446	HP:0007301	Oromotor apraxia	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011446	HP:0001254	Lethargy	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002465	Poor speech	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011446	HP:0007301	Oromotor apraxia	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0000750	Delayed speech and language development	2	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011446	HP:0000750	Delayed speech and language development	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6	.		161
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.		38
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	HP:0040282 - Frequent		90
HP:0011446	HP:0000657	Oculomotor apraxia	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0011446	HP:0001256	Intellectual disability, mild	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0011446	HP:0030222	Visual agnosia	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0001260	Dysarthria	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0001268	Mental deterioration	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0000750	Delayed speech and language development	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0011446	HP:0001268	Mental deterioration	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0011446	HP:0001259	Coma	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0011446	HP:0002381	Aphasia	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0011446	HP:0001259	Coma	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011446	HP:0002381	Aphasia	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0001259	Coma	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011446	HP:0002381	Aphasia	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011446	HP:0000750	Delayed speech and language development	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0011446	HP:0001260	Dysarthria	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0011446	HP:0001618	Dysphonia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0011446	HP:0001260	Dysarthria	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0011446	HP:0001268	Mental deterioration	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0011446	HP:0001260	Dysarthria	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0011446	HP:0001268	Mental deterioration	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0011446	HP:0002300	Mutism	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0011446	HP:0011098	Speech apraxia	2	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0011098	Speech apraxia	2	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0011446	HP:0001268	Mental deterioration	2	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0011446	HP:0001260	Dysarthria	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0011446	HP:0025268	Stuttering	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0011446	HP:0011098	Speech apraxia	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0011446	HP:0000750	Delayed speech and language development	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0011446	HP:0001260	Dysarthria	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0011446	HP:0000750	Delayed speech and language development	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0010529	Echolalia	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0011446	HP:0001268	Mental deterioration	2	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA			1
HP:0011446	HP:0000750	Delayed speech and language development	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011446	HP:0000750	Delayed speech and language development	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0011446	HP:0002465	Poor speech	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0011446	HP:0000750	Delayed speech and language development	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011446	HP:0002465	Poor speech	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0011446	HP:0001268	Mental deterioration	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002300	Mutism	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		42
HP:0011446	HP:0002354	Memory impairment	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002371	Loss of speech	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002381	Aphasia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0011446	HP:0002465	Poor speech	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0010526	Dysgraphia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0010529	Echolalia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0001268	Mental deterioration	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0011446	HP:0002300	Mutism	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0011446	HP:0002354	Memory impairment	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0011446	HP:0002371	Loss of speech	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0011446	HP:0001268	Mental deterioration	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002300	Mutism	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		42
HP:0011446	HP:0002354	Memory impairment	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002381	Aphasia	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0010523	Alexia	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		42
HP:0011446	HP:0010526	Dysgraphia	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		42
HP:0011446	HP:0030391	Spoken word recognition deficit	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0001268	Mental deterioration	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0011446	HP:0002381	Aphasia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0010523	Alexia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0011446	HP:0010526	Dysgraphia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0011446	HP:0030222	Visual agnosia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0001260	Dysarthria	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0011446	HP:0001260	Dysarthria	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0011446	HP:0002329	Drowsiness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0011446	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:0011446	HP:0001289	Confusion	2	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.		188
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011446	HP:0010864	Intellectual disability, severe	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0011446	HP:0002329	Drowsiness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0011446	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:0011446	HP:0002329	Drowsiness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0011446	HP:0001260	Dysarthria	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0011446	HP:0002329	Drowsiness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0011446	HP:0002465	Poor speech	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0011446	HP:0000750	Delayed speech and language development	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0011446	HP:0002465	Poor speech	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.		39
HP:0011446	HP:0001260	Dysarthria	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare		118
HP:0011446	HP:0001260	Dysarthria	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		3
HP:0011446	HP:0001268	Mental deterioration	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent		16
HP:0011446	HP:0002300	Mutism	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002381	Aphasia	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0010529	Echolalia	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0011446	HP:0001256	Intellectual disability, mild	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0011446	HP:0001262	Excessive daytime somnolence	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0011446	HP:0000750	Delayed speech and language development	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0001260	Dysarthria	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	HP:0006889	Intellectual disability, borderline	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional		4
HP:0011446	HP:0001260	Dysarthria	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0011446	HP:0001268	Mental deterioration	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0011446	HP:0001260	Dysarthria	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0001268	Mental deterioration	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0002354	Memory impairment	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0001260	Dysarthria	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	HP:0040283 - Occasional		141
HP:0011446	HP:0001268	Mental deterioration	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0011446	HP:0001268	Mental deterioration	2	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0011446	HP:0001268	Mental deterioration	2	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive			143
HP:0011446	HP:0001268	Mental deterioration	2	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0011446	HP:0000750	Delayed speech and language development	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0011446	HP:0001268	Mental deterioration	2	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011446	HP:0002371	Loss of speech	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0011446	HP:0001260	Dysarthria	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0007301	Oromotor apraxia	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0031843	Bradyphrenia	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0011446	HP:0000750	Delayed speech and language development	2	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation			47
HP:0011446	HP:0000750	Delayed speech and language development	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	HP:0001260	Dysarthria	2	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0002465	Poor speech	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0010864	Intellectual disability, severe	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0000750	Delayed speech and language development	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0001268	Mental deterioration	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0002465	Poor speech	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0011446	HP:0001260	Dysarthria	2	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent		16
HP:0011446	HP:0001260	Dysarthria	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0011446	HP:0001268	Mental deterioration	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0011446	HP:0001256	Intellectual disability, mild	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0011446	HP:0002342	Intellectual disability, moderate	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0011446	HP:0000750	Delayed speech and language development	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0011446	HP:0002342	Intellectual disability, moderate	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0011446	HP:0010864	Intellectual disability, severe	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.		71
HP:0011446	HP:0002465	Poor speech	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0011446	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:0011446	HP:0002329	Drowsiness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0011446	HP:0001618	Dysphonia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0011446	HP:0002300	Mutism	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011446	HP:0002381	Aphasia	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011446	HP:0010529	Echolalia	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011446	HP:0002300	Mutism	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0011446	HP:0002381	Aphasia	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0011446	HP:0010529	Echolalia	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0011446	HP:0001618	Dysphonia	2	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27			702
HP:0011446	HP:0001618	Dysphonia	2	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type			702
HP:0011446	HP:0001260	Dysarthria	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0011446	HP:0001256	Intellectual disability, mild	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0011446	HP:0002381	Aphasia	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011446	HP:0001268	Mental deterioration	2	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA			6
HP:0011446	HP:0000750	Delayed speech and language development	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0010864	Intellectual disability, severe	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0010864	Intellectual disability, severe	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0011446	HP:0002168	Scanning speech	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0011446	HP:0001260	Dysarthria	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0011446	HP:0001260	Dysarthria	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0011446	HP:0001618	Dysphonia	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0011446	HP:0001260	Dysarthria	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional		54
HP:0011446	HP:0002342	Intellectual disability, moderate	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001260	Dysarthria	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0011446	HP:0010864	Intellectual disability, severe	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0011446	HP:0001268	Mental deterioration	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0011446	HP:0001268	Mental deterioration	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001254	Lethargy	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0011446	HP:0001268	Mental deterioration	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0011446	HP:0002300	Mutism	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0002381	Aphasia	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0010529	Echolalia	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0001260	Dysarthria	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0011446	HP:0001260	Dysarthria	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0011446	HP:0001268	Mental deterioration	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011446	HP:0002168	Scanning speech	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0011446	HP:0002354	Memory impairment	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0011446	HP:0000657	Oculomotor apraxia	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000657	Oculomotor apraxia	2	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0011446	HP:0000750	Delayed speech and language development	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent		1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0011446	HP:0006889	Intellectual disability, borderline	2	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0011446	HP:0001289	Confusion	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0011446	HP:0001254	Lethargy	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0011446	HP:0001259	Coma	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0011446	HP:0001254	Lethargy	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent		99
HP:0011446	HP:0001259	Coma	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent		99
HP:0011446	HP:0007185	Loss of consciousness	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent		99
HP:0011446	HP:0001254	Lethargy	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0011446	HP:0001259	Coma	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0011446	HP:0001259	Coma	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0011446	HP:0001254	Lethargy	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.		101
HP:0011446	HP:0001254	Lethargy	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0011446	HP:0001259	Coma	2	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.		101
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0011446	HP:0000750	Delayed speech and language development	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	HP:0001256	Intellectual disability, mild	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.		19
HP:0011446	HP:0010864	Intellectual disability, severe	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.		19
HP:0011446	HP:0000750	Delayed speech and language development	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040281 - Very frequent		46
HP:0011446	HP:0001260	Dysarthria	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0011446	HP:0001268	Mental deterioration	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0011446	HP:0002300	Mutism	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0011446	HP:0002465	Poor speech	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0011446	HP:0001260	Dysarthria	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0011446	HP:0001268	Mental deterioration	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0011446	HP:0002300	Mutism	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0011446	HP:0002354	Memory impairment	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0011446	HP:0000750	Delayed speech and language development	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011446	HP:0000657	Oculomotor apraxia	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0000657	Oculomotor apraxia	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0011446	HP:0000657	Oculomotor apraxia	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		57
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI			3
HP:0011446	HP:0001256	Intellectual disability, mild	2	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0001260	Dysarthria	2	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	.		51
HP:0011446	HP:0001268	Mental deterioration	2	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0001260	Dysarthria	2	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent		51
HP:0011446	HP:0001268	Mental deterioration	2	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011446	HP:0010864	Intellectual disability, severe	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0001260	Dysarthria	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0011446	HP:0001268	Mental deterioration	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001259	Coma	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0011446	HP:0001262	Excessive daytime somnolence	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0011446	HP:0001256	Intellectual disability, mild	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0011446	HP:0002465	Poor speech	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent		88
HP:0011446	HP:0010864	Intellectual disability, severe	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0011446	HP:0001268	Mental deterioration	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0011446	HP:0001268	Mental deterioration	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0011446	HP:0006887	Intellectual disability, progressive	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0011446	HP:0010864	Intellectual disability, severe	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0011446	HP:0001260	Dysarthria	2	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0011446	HP:0001268	Mental deterioration	2	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0011446	HP:0001262	Excessive daytime somnolence	2	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	HP:0002354	Memory impairment	2	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0011446	HP:0001289	Confusion	2	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.		273
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0000750	Delayed speech and language development	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0001256	Intellectual disability, mild	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0011446	HP:0001260	Dysarthria	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.		9
HP:0011446	HP:0010864	Intellectual disability, severe	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0011446	HP:0010864	Intellectual disability, severe	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0011446	HP:0001259	Coma	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	HP:0001268	Mental deterioration	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011446	HP:0001268	Mental deterioration	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0002354	Memory impairment	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0002381	Aphasia	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0010529	Echolalia	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0001254	Lethargy	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0011446	HP:0001260	Dysarthria	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0011446	HP:0001260	Dysarthria	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0001268	Mental deterioration	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0001268	Mental deterioration	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0001618	Dysphonia	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0001260	Dysarthria	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0011446	HP:0001260	Dysarthria	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.		57
HP:0011446	HP:0001254	Lethargy	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0011446	HP:0002329	Drowsiness	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0011446	HP:0007185	Loss of consciousness	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0011446	HP:0001268	Mental deterioration	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001260	Dysarthria	2	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.		4
HP:0011446	HP:0002168	Scanning speech	2	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0002465	Poor speech	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0001268	Mental deterioration	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:0011446	HP:0001260	Dysarthria	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	HP:0040283 - Occasional		60
HP:0011446	HP:0001254	Lethargy	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0011446	HP:0001259	Coma	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0011446	HP:0001256	Intellectual disability, mild	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0011446	HP:0001260	Dysarthria	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0011446	HP:0001260	Dysarthria	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0011446	HP:0001268	Mental deterioration	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0011446	HP:0001256	Intellectual disability, mild	2	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	HP:0040284 - Very rare		36
HP:0011446	HP:0001256	Intellectual disability, mild	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0011446	HP:0010864	Intellectual disability, severe	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0011446	HP:0000750	Delayed speech and language development	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0011446	HP:0001260	Dysarthria	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0011446	HP:0001618	Dysphonia	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0011446	HP:0001260	Dysarthria	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0011446	HP:0001268	Mental deterioration	2	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0011446	HP:0001268	Mental deterioration	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0011446	HP:0001260	Dysarthria	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0011446	HP:0006887	Intellectual disability, progressive	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0011446	HP:0001254	Lethargy	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0011446	HP:0001260	Dysarthria	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent		29
HP:0011446	HP:0001260	Dysarthria	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0011446	HP:0007301	Oromotor apraxia	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011446	HP:0001260	Dysarthria	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0011446	HP:0000750	Delayed speech and language development	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0011446	HP:0002381	Aphasia	2	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent		172
HP:0011446	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:0011446	HP:0002381	Aphasia	2	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci			172
HP:0011446	HP:0001268	Mental deterioration	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0011446	HP:0001618	Dysphonia	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0011446	HP:0001618	Dysphonia	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0011446	HP:0001268	Mental deterioration	2	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA
HP:0011446	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011446	HP:0001254	Lethargy	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002465	Poor speech	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011446	HP:0007301	Oromotor apraxia	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011446	HP:0001254	Lethargy	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011446	HP:0002465	Poor speech	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0007301	Oromotor apraxia	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011446	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011446	HP:0001254	Lethargy	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002465	Poor speech	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0011446	HP:0007301	Oromotor apraxia	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011446	HP:0001254	Lethargy	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002465	Poor speech	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011446	HP:0007301	Oromotor apraxia	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0000750	Delayed speech and language development	2	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011446	HP:0000657	Oculomotor apraxia	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0011446	HP:0001256	Intellectual disability, mild	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0011446	HP:0001260	Dysarthria	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0011446	HP:0001268	Mental deterioration	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0011446	HP:0002465	Poor speech	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0011446	HP:0010864	Intellectual disability, severe	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0011446	HP:0011098	Speech apraxia	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0011446	HP:0001254	Lethargy	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0011446	HP:0001254	Lethargy	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent		89
HP:0011446	HP:0000750	Delayed speech and language development	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011446	HP:0001254	Lethargy	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002465	Poor speech	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011446	HP:0007301	Oromotor apraxia	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011446	HP:0001254	Lethargy	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011446	HP:0002465	Poor speech	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0007301	Oromotor apraxia	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011446	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011446	HP:0001254	Lethargy	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002465	Poor speech	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0011446	HP:0007301	Oromotor apraxia	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011446	HP:0001254	Lethargy	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002465	Poor speech	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011446	HP:0007301	Oromotor apraxia	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0000750	Delayed speech and language development	2	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011446	HP:0001618	Dysphonia	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0011446	HP:0000750	Delayed speech and language development	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0011098	Speech apraxia	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0031843	Bradyphrenia	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0011446	HP:0006887	Intellectual disability, progressive	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0011446	HP:0010864	Intellectual disability, severe	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	HP:0003577 - Congenital onset	152
HP:0011446	HP:0002187	Intellectual disability, profound	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81			3
HP:0011446	HP:0001260	Dysarthria	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0011446	HP:0001260	Dysarthria	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001618	Dysphonia	2	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	HP:0040283 - Occasional		30
HP:0011446	HP:0001260	Dysarthria	2	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent		103
HP:0011446	HP:0000750	Delayed speech and language development	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0001256	Intellectual disability, mild	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0011446	HP:0001268	Mental deterioration	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001268	Mental deterioration	2	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant			155
HP:0011446	HP:0002425	Anarthria	2	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		6
HP:0011446	HP:0001260	Dysarthria	2	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.		6
HP:0011446	HP:0001268	Mental deterioration	2	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0011446	HP:0001268	Mental deterioration	2	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0011446	HP:0001268	Mental deterioration	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0011446	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:0011446	HP:0002381	Aphasia	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011446	HP:0000657	Oculomotor apraxia	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0011446	HP:0001268	Mental deterioration	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0011446	HP:0002354	Memory impairment	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0011446	HP:0001268	Mental deterioration	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0011446	HP:0002354	Memory impairment	2	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0011446	HP:0001268	Mental deterioration	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0011446	HP:0001289	Confusion	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0011446	HP:0002354	Memory impairment	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0011446	HP:0000750	Delayed speech and language development	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0011446	HP:0001618	Dysphonia	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0011446	HP:0001256	Intellectual disability, mild	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040282 - Frequent		44
HP:0011446	HP:0010864	Intellectual disability, severe	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0011446	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:0011446	HP:0002465	Poor speech	2	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:0011446	HP:0000750	Delayed speech and language development	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0011446	HP:0002329	Drowsiness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0011446	HP:0000750	Delayed speech and language development	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0011446	HP:0010864	Intellectual disability, severe	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040282 - Frequent		38
HP:0011446	HP:0000750	Delayed speech and language development	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002342	Intellectual disability, moderate	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	HP:0010864	Intellectual disability, severe	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011446	HP:0000750	Delayed speech and language development	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	HP:0002187	Intellectual disability, profound	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0011446	HP:0000750	Delayed speech and language development	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0001254	Lethargy	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0011446	HP:0002187	Intellectual disability, profound	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011446	HP:0000750	Delayed speech and language development	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0011446	HP:0001254	Lethargy	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0011446	HP:0001262	Excessive daytime somnolence	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0011446	HP:0000750	Delayed speech and language development	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0010864	Intellectual disability, severe	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA			21
HP:0011446	HP:0001260	Dysarthria	2	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.		21
HP:0011446	HP:0001256	Intellectual disability, mild	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011446	HP:0001254	Lethargy	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0011446	HP:0001254	Lethargy	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0011446	HP:0001254	Lethargy	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0011446	HP:0001260	Dysarthria	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0011446	HP:0002465	Poor speech	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0011446	HP:0010864	Intellectual disability, severe	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0010864	Intellectual disability, severe	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011446	HP:0000750	Delayed speech and language development	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0011098	Speech apraxia	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0011446	HP:0002342	Intellectual disability, moderate	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0011446	HP:0001260	Dysarthria	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0011446	HP:0010864	Intellectual disability, severe	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0011446	HP:0002354	Memory impairment	2	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.		14
HP:0011446	HP:0001618	Dysphonia	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011446	HP:0001256	Intellectual disability, mild	2	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.		1
HP:0011446	HP:0000750	Delayed speech and language development	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011446	HP:0000750	Delayed speech and language development	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0011446	HP:0000750	Delayed speech and language development	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0011446	HP:0010864	Intellectual disability, severe	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0011446	HP:0001260	Dysarthria	2	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0011446	HP:0001260	Dysarthria	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent		4
HP:0011446	HP:0000750	Delayed speech and language development	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4			73
HP:0011446	HP:0000750	Delayed speech and language development	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0011446	HP:0010864	Intellectual disability, severe	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	.		223
HP:0011446	HP:0002300	Mutism	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0011446	HP:0002381	Aphasia	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0011446	HP:0010529	Echolalia	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent		223
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0011446	HP:0001254	Lethargy	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0011446	HP:0001260	Dysarthria	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0011446	HP:0002354	Memory impairment	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0011446	HP:0001254	Lethargy	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0011446	HP:0001260	Dysarthria	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0011446	HP:0002354	Memory impairment	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0011446	HP:0001254	Lethargy	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0011446	HP:0001260	Dysarthria	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0011446	HP:0002354	Memory impairment	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0011446	HP:0001254	Lethargy	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0011446	HP:0001260	Dysarthria	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0011446	HP:0002354	Memory impairment	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0011446	HP:0001254	Lethargy	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0011446	HP:0001260	Dysarthria	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0011446	HP:0002354	Memory impairment	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0011446	HP:0000750	Delayed speech and language development	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0011446	HP:0002465	Poor speech	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0011446	HP:0010864	Intellectual disability, severe	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0011446	HP:0000750	Delayed speech and language development	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0011446	HP:0001260	Dysarthria	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0011446	HP:0001618	Dysphonia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0011446	HP:0010526	Dysgraphia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0011446	HP:0001260	Dysarthria	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0011446	HP:0002187	Intellectual disability, profound	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0011446	HP:0001260	Dysarthria	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0011446	HP:0001260	Dysarthria	2	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0011446	HP:0001260	Dysarthria	2	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.		4
HP:0011446	HP:0001260	Dysarthria	2	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040281 - Very frequent		4
HP:0011446	HP:0000750	Delayed speech and language development	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011446	HP:0010864	Intellectual disability, severe	2	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.		3
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive	.		3
HP:0011446	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0011446	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011446	HP:0000750	Delayed speech and language development	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0011446	HP:0001256	Intellectual disability, mild	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011446	HP:0001618	Dysphonia	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0011446	HP:0010864	Intellectual disability, severe	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0011446	HP:0001260	Dysarthria	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011446	HP:0002354	Memory impairment	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011446	HP:0010526	Dysgraphia	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011446	HP:0001260	Dysarthria	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0011446	HP:0001268	Mental deterioration	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0011446	HP:0001289	Confusion	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0011446	HP:0031358	Vegetative state	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional		83
HP:0011446	HP:0001268	Mental deterioration	2	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0011446	HP:0001260	Dysarthria	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011446	HP:0010528	Prosopagnosia	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011446	HP:0001289	Confusion	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0011446	HP:0002354	Memory impairment	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.		12
HP:0011446	HP:0001260	Dysarthria	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011446	HP:0001618	Dysphonia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0011446	HP:0000750	Delayed speech and language development	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0011446	HP:0006887	Intellectual disability, progressive	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0011446	HP:0001268	Mental deterioration	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0011446	HP:0001260	Dysarthria	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0011446	HP:0001289	Confusion	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0011446	HP:0001260	Dysarthria	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011446	HP:0001618	Dysphonia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0011446	HP:0006887	Intellectual disability, progressive	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0011446	HP:0001260	Dysarthria	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0011446	HP:0001289	Confusion	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0011446	HP:0006887	Intellectual disability, progressive	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0011446	HP:0001268	Mental deterioration	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0011446	HP:0001260	Dysarthria	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0011446	HP:0001289	Confusion	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0011446	HP:0001256	Intellectual disability, mild	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0011446	HP:0006887	Intellectual disability, progressive	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0011446	HP:0001260	Dysarthria	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0011446	HP:0001289	Confusion	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0011446	HP:0001268	Mental deterioration	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011446	HP:0002187	Intellectual disability, profound	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0011446	HP:0001256	Intellectual disability, mild	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0011446	HP:0001268	Mental deterioration	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0011446	HP:0001268	Mental deterioration	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0011446	HP:0001260	Dysarthria	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011446	HP:0001268	Mental deterioration	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011446	HP:0001256	Intellectual disability, mild	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0011446	HP:0001268	Mental deterioration	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0011446	HP:0000750	Delayed speech and language development	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0011446	HP:0000750	Delayed speech and language development	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4			12
HP:0011446	HP:0001260	Dysarthria	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040282 - Frequent		2
HP:0011446	HP:0001260	Dysarthria	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0011446	HP:0002371	Loss of speech	2	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		18
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.		36
HP:0011446	HP:0001259	Coma	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0011446	HP:0001259	Coma	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0011446	HP:0001259	Coma	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0011446	HP:0000750	Delayed speech and language development	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	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:0011446	HP:0002465	Poor speech	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0011446	HP:0002342	Intellectual disability, moderate	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0011446	HP:0010864	Intellectual disability, severe	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011446	HP:0001256	Intellectual disability, mild	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011446	HP:0001260	Dysarthria	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011446	HP:0000657	Oculomotor apraxia	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0011446	HP:0001260	Dysarthria	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0011446	HP:0001268	Mental deterioration	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0011446	HP:0001260	Dysarthria	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0011446	HP:0001268	Mental deterioration	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent		76
HP:0011446	HP:0002381	Aphasia	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0011446	HP:0002425	Anarthria	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0011446	HP:0001260	Dysarthria	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0011446	HP:0001268	Mental deterioration	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0011446	HP:0001260	Dysarthria	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0002354	Memory impairment	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0010526	Dysgraphia	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0011446	HP:0001268	Mental deterioration	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0011446	HP:0002354	Memory impairment	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0011446	HP:0002425	Anarthria	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent		36
HP:0011446	HP:0001289	Confusion	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0011446	HP:0002354	Memory impairment	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0011446	HP:0001260	Dysarthria	2	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.		2
HP:0011446	HP:0002342	Intellectual disability, moderate	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0011446	HP:0010864	Intellectual disability, severe	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0011446	HP:0001256	Intellectual disability, mild	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0011446	HP:0001256	Intellectual disability, mild	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0011446	HP:0001254	Lethargy	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0011446	HP:0001259	Coma	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0011446	HP:0001259	Coma	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0011446	HP:0001262	Excessive daytime somnolence	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0011446	HP:0002329	Drowsiness	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0011446	HP:0002465	Poor speech	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.		36
HP:0011446	HP:0001268	Mental deterioration	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011446	HP:0010864	Intellectual disability, severe	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0011446	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:0011446	HP:0002465	Poor speech	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0011446	HP:0002465	Poor speech	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0011446	HP:0001256	Intellectual disability, mild	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional		47
HP:0011446	HP:0001260	Dysarthria	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040281 - Very frequent		47
HP:0011446	HP:0002354	Memory impairment	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent		47
HP:0011446	HP:0010526	Dysgraphia	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040284 - Very rare		47
HP:0011446	HP:0001260	Dysarthria	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011446	HP:0001254	Lethargy	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002465	Poor speech	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011446	HP:0007301	Oromotor apraxia	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0001260	Dysarthria	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011446	HP:0001254	Lethargy	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011446	HP:0002465	Poor speech	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0007301	Oromotor apraxia	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011446	HP:0001254	Lethargy	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002465	Poor speech	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0011446	HP:0007301	Oromotor apraxia	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011446	HP:0001254	Lethargy	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002465	Poor speech	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011446	HP:0007301	Oromotor apraxia	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0000750	Delayed speech and language development	2	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011446	HP:0002300	Mutism	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011446	HP:0002381	Aphasia	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011446	HP:0010529	Echolalia	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011446	HP:0001260	Dysarthria	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0011446	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011446	HP:0001254	Lethargy	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0011446	HP:0002465	Poor speech	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0007301	Oromotor apraxia	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0011446	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0011446	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011446	HP:0001254	Lethargy	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0002465	Poor speech	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0011446	HP:0007301	Oromotor apraxia	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0000750	Delayed speech and language development	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0011446	HP:0002342	Intellectual disability, moderate	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0011446	HP:0002342	Intellectual disability, moderate	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0011446	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:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0011446	HP:0010864	Intellectual disability, severe	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0011446	HP:0002187	Intellectual disability, profound	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0011446	HP:0001618	Dysphonia	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0001289	Confusion	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0001618	Dysphonia	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0011446	HP:0001289	Confusion	2	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital			111
HP:0011446	HP:0001260	Dysarthria	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0002465	Poor speech	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0001256	Intellectual disability, mild	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0011446	HP:0002381	Aphasia	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0010529	Echolalia	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2			493
HP:0011446	HP:0001256	Intellectual disability, mild	2	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.		493
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.		493
HP:0011446	HP:0001260	Dysarthria	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0011446	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:0011446	HP:0002465	Poor speech	2	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent		30
HP:0011446	HP:0001260	Dysarthria	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0001268	Mental deterioration	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0002354	Memory impairment	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0001260	Dysarthria	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0011446	HP:0001268	Mental deterioration	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0011446	HP:0002354	Memory impairment	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011446	HP:0010864	Intellectual disability, severe	2	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		9
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0010864	Intellectual disability, severe	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011446	HP:0001254	Lethargy	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002465	Poor speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011446	HP:0007301	Oromotor apraxia	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011446	HP:0001254	Lethargy	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011446	HP:0002465	Poor speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0007301	Oromotor apraxia	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011446	HP:0001254	Lethargy	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002465	Poor speech	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0011446	HP:0007301	Oromotor apraxia	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011446	HP:0001254	Lethargy	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002465	Poor speech	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011446	HP:0007301	Oromotor apraxia	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0007301	Oromotor apraxia	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0011446	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:0011446	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:0011446	HP:0011098	Speech apraxia	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0002465	Poor speech	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0002546	Incomprehensible speech	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0011098	Speech apraxia	2	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0000750	Delayed speech and language development	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.		143
HP:0011446	HP:0002546	Incomprehensible speech	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.		143
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1			143
HP:0011446	HP:0007301	Oromotor apraxia	2	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1	.		143
HP:0011446	HP:0001254	Lethargy	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0011446	HP:0001260	Dysarthria	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0011446	HP:0010864	Intellectual disability, severe	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0011446	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:0011446	HP:0002465	Poor speech	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040283 - Occasional		1
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0011446	HP:0002381	Aphasia	2	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0011446	HP:0011098	Speech apraxia	2	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0011446	HP:0000750	Delayed speech and language development	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0011446	HP:0010864	Intellectual disability, severe	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0011446	HP:0000750	Delayed speech and language development	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0011446	HP:0010864	Intellectual disability, severe	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional		65
HP:0011446	HP:0001260	Dysarthria	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0011446	HP:0001268	Mental deterioration	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0011446	HP:0001618	Dysphonia	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0002300	Mutism	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0002425	Anarthria	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0001260	Dysarthria	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent		33
HP:0011446	HP:0001268	Mental deterioration	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0011446	HP:0001618	Dysphonia	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent		33
HP:0011446	HP:0000750	Delayed speech and language development	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0002342	Intellectual disability, moderate	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0011446	HP:0010864	Intellectual disability, severe	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0011446	HP:0001260	Dysarthria	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0011446	HP:0001268	Mental deterioration	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0011446	HP:0002300	Mutism	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0011446	HP:0002425	Anarthria	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0011446	HP:0001260	Dysarthria	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0011446	HP:0001618	Dysphonia	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0011446	HP:0001260	Dysarthria	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent		18
HP:0011446	HP:0002546	Incomprehensible speech	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0011446	HP:0001260	Dysarthria	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0011446	HP:0001256	Intellectual disability, mild	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0001256	Intellectual disability, mild	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0002300	Mutism	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0002371	Loss of speech	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0032588	Hand apraxia	2	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0000750	Delayed speech and language development	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0011446	HP:0010864	Intellectual disability, severe	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001254	Lethargy	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0011446	HP:0001268	Mental deterioration	2	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0011446	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:0011446	HP:0002465	Poor speech	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0000750	Delayed speech and language development	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0011446	HP:0006889	Intellectual disability, borderline	2	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		139
HP:0011446	HP:0002187	Intellectual disability, profound	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0011446	HP:0001268	Mental deterioration	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0011446	HP:0002371	Loss of speech	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare		160
HP:0011446	HP:0001268	Mental deterioration	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0011446	HP:0001268	Mental deterioration	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0011446	HP:0001260	Dysarthria	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0011446	HP:0001268	Mental deterioration	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0011446	HP:0002371	Loss of speech	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0011446	HP:0000750	Delayed speech and language development	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0011446	HP:0001268	Mental deterioration	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0011446	HP:0011098	Speech apraxia	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011446	HP:0000750	Delayed speech and language development	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0011446	HP:0001254	Lethargy	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0011446	HP:0001256	Intellectual disability, mild	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0011446	HP:0001260	Dysarthria	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0011446	HP:0001268	Mental deterioration	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0011446	HP:0011098	Speech apraxia	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0011446	HP:0000750	Delayed speech and language development	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0011446	HP:0010864	Intellectual disability, severe	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0011446	HP:0002465	Poor speech	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040282 - Frequent		91
HP:0011446	HP:0010864	Intellectual disability, severe	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040282 - Frequent		91
HP:0011446	HP:0001260	Dysarthria	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0011446	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011446	HP:0001254	Lethargy	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002465	Poor speech	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011446	HP:0007301	Oromotor apraxia	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011446	HP:0001254	Lethargy	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011446	HP:0002465	Poor speech	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0007301	Oromotor apraxia	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011446	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011446	HP:0001254	Lethargy	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002465	Poor speech	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0011446	HP:0007301	Oromotor apraxia	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011446	HP:0001254	Lethargy	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002465	Poor speech	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011446	HP:0007301	Oromotor apraxia	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0000750	Delayed speech and language development	2	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		29
HP:0011446	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:0011446	HP:0002465	Poor speech	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0011446	HP:0002465	Poor speech	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.		33
HP:0011446	HP:0010864	Intellectual disability, severe	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0011446	HP:0002465	Poor speech	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:0011446	HP:0002546	Incomprehensible speech	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.		86
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0011446	HP:0007159	Fluctuations in consciousness	2	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011446	HP:0000657	Oculomotor apraxia	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0011446	HP:0000657	Oculomotor apraxia	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0001268	Mental deterioration	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0011446	HP:0001260	Dysarthria	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0011446	HP:0001268	Mental deterioration	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0011446	HP:0001260	Dysarthria	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0011446	HP:0001268	Mental deterioration	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0011446	HP:0001268	Mental deterioration	2	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0011446	HP:0001260	Dysarthria	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011446	HP:0000750	Delayed speech and language development	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0011446	HP:0001260	Dysarthria	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0011446	HP:0001268	Mental deterioration	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011446	HP:0007185	Loss of consciousness	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0011446	HP:0001260	Dysarthria	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0011446	HP:0001254	Lethargy	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0011446	HP:0001268	Mental deterioration	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0011446	HP:0006887	Intellectual disability, progressive	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0011446	HP:0001259	Coma	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0011446	HP:0001259	Coma	2	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040283 - Occasional		237
HP:0011446	HP:0001259	Coma	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		237
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0011446	HP:0001254	Lethargy	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0011446	HP:0001260	Dysarthria	2	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0011446	HP:0001268	Mental deterioration	2	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0011446	HP:0001256	Intellectual disability, mild	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0011446	HP:0010864	Intellectual disability, severe	2	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41			20
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0011446	HP:0002329	Drowsiness	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0011446	HP:0001260	Dysarthria	2	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0011446	HP:0001260	Dysarthria	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0011446	HP:0001618	Dysphonia	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0011446	HP:0000750	Delayed speech and language development	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0011446	HP:0001260	Dysarthria	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0011446	HP:0001260	Dysarthria	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0011446	HP:0001268	Mental deterioration	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0011446	HP:0001260	Dysarthria	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0001260	Dysarthria	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0011446	HP:0001260	Dysarthria	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.		107
HP:0011446	HP:0002381	Aphasia	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0011446	HP:0001260	Dysarthria	2	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0011446	HP:0001262	Excessive daytime somnolence	2	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional		107
HP:0011446	HP:0001260	Dysarthria	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0011446	HP:0001260	Dysarthria	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent		37
HP:0011446	HP:0001260	Dysarthria	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0011446	HP:0002465	Poor speech	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0011446	HP:0001260	Dysarthria	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.		37
HP:0011446	HP:0001254	Lethargy	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0011446	HP:0001259	Coma	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0011446	HP:0007185	Loss of consciousness	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0011446	HP:0001268	Mental deterioration	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011446	HP:0001256	Intellectual disability, mild	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0011446	HP:0001254	Lethargy	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0011446	HP:0001260	Dysarthria	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0011446	HP:0002300	Mutism	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0011446	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011446	HP:0001254	Lethargy	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002465	Poor speech	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011446	HP:0007301	Oromotor apraxia	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011446	HP:0001254	Lethargy	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011446	HP:0002465	Poor speech	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0007301	Oromotor apraxia	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011446	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011446	HP:0001254	Lethargy	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002465	Poor speech	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0011446	HP:0007301	Oromotor apraxia	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011446	HP:0001254	Lethargy	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002465	Poor speech	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011446	HP:0007301	Oromotor apraxia	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0000750	Delayed speech and language development	2	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011446	HP:0010864	Intellectual disability, severe	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		270
HP:0011446	HP:0001256	Intellectual disability, mild	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0011446	HP:0001256	Intellectual disability, mild	2	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional		270
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0011446	HP:0001260	Dysarthria	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0011446	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:0011446	HP:0001259	Coma	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0011446	HP:0002342	Intellectual disability, moderate	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0011446	HP:0001260	Dysarthria	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0001268	Mental deterioration	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0011446	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:0011446	HP:0007185	Loss of consciousness	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0011446	HP:0002371	Loss of speech	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0011446	HP:0001268	Mental deterioration	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0011446	HP:0002371	Loss of speech	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0011446	HP:0000750	Delayed speech and language development	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0001618	Dysphonia	2	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type			13
HP:0011446	HP:0001618	Dysphonia	2	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.		13
HP:0011446	HP:0000750	Delayed speech and language development	2	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0011446	HP:0000750	Delayed speech and language development	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0011446	HP:0001268	Mental deterioration	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0011446	HP:0002354	Memory impairment	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011446	HP:0001289	Confusion	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0011446	HP:0001618	Dysphonia	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011446	HP:0001618	Dysphonia	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0011446	HP:0001289	Confusion	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0011446	HP:0001618	Dysphonia	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011446	HP:0000750	Delayed speech and language development	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0011446	HP:0001256	Intellectual disability, mild	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0011446	HP:0001256	Intellectual disability, mild	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0011446	HP:0002354	Memory impairment	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0011446	HP:0000750	Delayed speech and language development	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011446	HP:0002465	Poor speech	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0011446	HP:0001256	Intellectual disability, mild	2	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0011446	HP:0000750	Delayed speech and language development	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011446	HP:0001260	Dysarthria	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011446	HP:0001256	Intellectual disability, mild	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0011446	HP:0000750	Delayed speech and language development	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0011446	HP:0001260	Dysarthria	2	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.		88
HP:0011446	HP:0002354	Memory impairment	2	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0011446	HP:0000750	Delayed speech and language development	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0010864	Intellectual disability, severe	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0001256	Intellectual disability, mild	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0011446	HP:0002381	Aphasia	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011446	HP:0000750	Delayed speech and language development	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0001260	Dysarthria	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011446	HP:0000657	Oculomotor apraxia	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011446	HP:0002465	Poor speech	2	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation			1
HP:0011446	HP:0001256	Intellectual disability, mild	2	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0011446	HP:0000750	Delayed speech and language development	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0011446	HP:0001260	Dysarthria	2	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	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:0011446	HP:0001260	Dysarthria	2	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula			12
HP:0011446	HP:0000750	Delayed speech and language development	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011446	HP:0000750	Delayed speech and language development	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0000750	Delayed speech and language development	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	HP:0001260	Dysarthria	2	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	HP:0010864	Intellectual disability, severe	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94	.		30
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0011446	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:0011446	HP:0010529	Echolalia	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:0011446	HP:0001256	Intellectual disability, mild	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0011446	HP:0002187	Intellectual disability, profound	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0011446	HP:0002300	Mutism	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0011446	HP:0002342	Intellectual disability, moderate	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0011446	HP:0010864	Intellectual disability, severe	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0011446	HP:0002381	Aphasia	2	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0011446	HP:0011098	Speech apraxia	2	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002381	Aphasia	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0011098	Speech apraxia	2	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0011446	HP:0001268	Mental deterioration	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0011446	HP:0002300	Mutism	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0011446	HP:0002354	Memory impairment	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0011446	HP:0002371	Loss of speech	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0002381	Aphasia	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0011098	Speech apraxia	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0030391	Spoken word recognition deficit	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0006889	Intellectual disability, borderline	2	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		434
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0011446	HP:0002546	Incomprehensible speech	2	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0011446	HP:0011098	Speech apraxia	2	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		434
HP:0011446	HP:0000750	Delayed speech and language development	2	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0011446	HP:0000750	Delayed speech and language development	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0011446	HP:0001260	Dysarthria	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0001268	Mental deterioration	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002300	Mutism	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		126
HP:0011446	HP:0002354	Memory impairment	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002371	Loss of speech	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002381	Aphasia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0011446	HP:0002465	Poor speech	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0010526	Dysgraphia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0010529	Echolalia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0001268	Mental deterioration	2	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	HP:0040283 - Occasional		126
HP:0011446	HP:0001268	Mental deterioration	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0002300	Mutism	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0002354	Memory impairment	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0002381	Aphasia	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0001268	Mental deterioration	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002300	Mutism	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		126
HP:0011446	HP:0002354	Memory impairment	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002381	Aphasia	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0010523	Alexia	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		126
HP:0011446	HP:0010526	Dysgraphia	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		126
HP:0011446	HP:0030391	Spoken word recognition deficit	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0001268	Mental deterioration	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0011446	HP:0002381	Aphasia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0010523	Alexia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0011446	HP:0010526	Dysgraphia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0011446	HP:0030222	Visual agnosia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0001260	Dysarthria	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0011446	HP:0002354	Memory impairment	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011446	HP:0001260	Dysarthria	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.		39
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011446	HP:0001618	Dysphonia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0011446	HP:0002342	Intellectual disability, moderate	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.		2
HP:0011446	HP:0001260	Dysarthria	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011446	HP:0001618	Dysphonia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011446	HP:0001260	Dysarthria	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001618	Dysphonia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001260	Dysarthria	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001618	Dysphonia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001260	Dysarthria	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001618	Dysphonia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0001254	Lethargy	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0011446	HP:0002187	Intellectual disability, profound	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.		2
HP:0011446	HP:0002465	Poor speech	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0011446	HP:0001254	Lethargy	2	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional		100
HP:0011446	HP:0001256	Intellectual disability, mild	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0011446	HP:0001259	Coma	2	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0011446	HP:0001254	Lethargy	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0011446	HP:0001289	Confusion	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0011446	HP:0001254	Lethargy	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0011446	HP:0001254	Lethargy	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0011446	HP:0001259	Coma	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0011446	HP:0001254	Lethargy	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0011446	HP:0001254	Lethargy	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0011446	HP:0001259	Coma	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0011446	HP:0001254	Lethargy	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent		15
HP:0011446	HP:0002300	Mutism	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011446	HP:0002381	Aphasia	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011446	HP:0010529	Echolalia	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011446	HP:0000750	Delayed speech and language development	2	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18			185
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.		1
HP:0011446	HP:0002329	Drowsiness	2	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1			1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	HP:0002354	Memory impairment	2	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HCRT CL E G H	3060	4847	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0011446	HP:0010529	Echolalia	2	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.		1
HP:0011446	HP:0001256	Intellectual disability, mild	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011446	HP:0001256	Intellectual disability, mild	2	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		82
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0011446	HP:0001268	Mental deterioration	2	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0011446	HP:0001260	Dysarthria	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011446	HP:0002465	Poor speech	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0010529	Echolalia	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0011446	HP:0000750	Delayed speech and language development	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011446	HP:0001254	Lethargy	2	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:0011446	HP:0001260	Dysarthria	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0011446	HP:0001260	Dysarthria	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0011446	HP:0001268	Mental deterioration	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0011446	HP:0001260	Dysarthria	2	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0001268	Mental deterioration	2	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0025268	Stuttering	2	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0011446	HP:0001260	Dysarthria	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0011446	HP:0001268	Mental deterioration	2	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease			38
HP:0011446	HP:0001254	Lethargy	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0011446	HP:0001268	Mental deterioration	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0011446	HP:0002371	Loss of speech	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011446	HP:0001260	Dysarthria	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0011446	HP:0001268	Mental deterioration	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0011446	HP:0000750	Delayed speech and language development	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011446	HP:0000750	Delayed speech and language development	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0011446	HP:0002381	Aphasia	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011446	HP:0000750	Delayed speech and language development	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0011446	HP:0001254	Lethargy	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0011446	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:0011446	HP:0001289	Confusion	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0011446	HP:0002354	Memory impairment	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0011446	HP:0001268	Mental deterioration	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0011446	HP:0001289	Confusion	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0011446	HP:0002354	Memory impairment	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0011446	HP:0002381	Aphasia	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0011446	HP:0002354	Memory impairment	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		2
HP:0011446	HP:0002354	Memory impairment	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent		2
HP:0011446	HP:0001254	Lethargy	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0011446	HP:0001254	Lethargy	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0011446	HP:0001259	Coma	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0011446	HP:0001259	Coma	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0011446	HP:0001259	Coma	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare		81
HP:0011446	HP:0001260	Dysarthria	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0011446	HP:0001268	Mental deterioration	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0011446	HP:0001289	Confusion	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0011446	HP:0001618	Dysphonia	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0011446	HP:0002354	Memory impairment	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0011446	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:0011446	HP:0001254	Lethargy	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0011446	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:0011446	HP:0001259	Coma	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0011446	HP:0001260	Dysarthria	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0011446	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:0011446	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:0011446	HP:0001259	Coma	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0011446	HP:0001254	Lethargy	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0011446	HP:0001259	Coma	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0011446	HP:0002329	Drowsiness	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0011446	HP:0007185	Loss of consciousness	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0011446	HP:0001254	Lethargy	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0011446	HP:0001259	Coma	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0011446	HP:0001268	Mental deterioration	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0011446	HP:0002329	Drowsiness	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0011446	HP:0000750	Delayed speech and language development	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51			3
HP:0011446	HP:0010864	Intellectual disability, severe	2	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	.		3
HP:0011446	HP:0001268	Mental deterioration	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0011446	HP:0002300	Mutism	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:0011446	HP:0002381	Aphasia	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:0011446	HP:0001268	Mental deterioration	2	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0011446	HP:0001268	Mental deterioration	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0011446	HP:0002300	Mutism	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:0011446	HP:0002381	Aphasia	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:0011446	HP:0000750	Delayed speech and language development	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0010864	Intellectual disability, severe	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	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:0011446	HP:0002465	Poor speech	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0011446	HP:0000750	Delayed speech and language development	2	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0011446	HP:0000750	Delayed speech and language development	2	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent		21
HP:0011446	HP:0000750	Delayed speech and language development	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0011446	HP:0001260	Dysarthria	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0011446	HP:0001260	Dysarthria	2	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.		4
HP:0011446	HP:0001260	Dysarthria	2	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent		4
HP:0011446	HP:0001256	Intellectual disability, mild	2	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.		23
HP:0011446	HP:0001256	Intellectual disability, mild	2	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent		76
HP:0011446	HP:0001260	Dysarthria	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0011446	HP:0002342	Intellectual disability, moderate	2	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent		76
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0011446	HP:0000750	Delayed speech and language development	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0011446	HP:0002465	Poor speech	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0011446	HP:0010864	Intellectual disability, severe	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0011446	HP:0030391	Spoken word recognition deficit	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0011446	HP:0000750	Delayed speech and language development	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0011446	HP:0001260	Dysarthria	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0011446	HP:0001268	Mental deterioration	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0011446	HP:0001256	Intellectual disability, mild	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0011446	HP:0001260	Dysarthria	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional		98
HP:0011446	HP:0002187	Intellectual disability, profound	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0011446	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:0011446	HP:0002465	Poor speech	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0011446	HP:0001618	Dysphonia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011446	HP:0001268	Mental deterioration	2	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA			4
HP:0011446	HP:0001260	Dysarthria	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0011446	HP:0001268	Mental deterioration	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0002381	Aphasia	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0010521	Gait apraxia	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0011446	HP:0001268	Mental deterioration	2	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2			34
HP:0011446	HP:0001260	Dysarthria	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0001268	Mental deterioration	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0001618	Dysphonia	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0001268	Mental deterioration	2	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0011446	HP:0001262	Excessive daytime somnolence	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0011446	HP:0001268	Mental deterioration	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		12
HP:0011446	HP:0001268	Mental deterioration	2	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0011446	HP:0002300	Mutism	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0011446	HP:0002354	Memory impairment	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0011446	HP:0031843	Bradyphrenia	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0011446	HP:0001268	Mental deterioration	2	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0011446	HP:0000750	Delayed speech and language development	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0011446	HP:0010864	Intellectual disability, severe	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0011446	HP:0000750	Delayed speech and language development	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0011446	HP:0001268	Mental deterioration	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040284 - Very rare		86
HP:0011446	HP:0001268	Mental deterioration	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0011446	HP:0002187	Intellectual disability, profound	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0011446	HP:0001268	Mental deterioration	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011446	HP:0002187	Intellectual disability, profound	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0011446	HP:0002187	Intellectual disability, profound	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		28
HP:0011446	HP:0002371	Loss of speech	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0011446	HP:0000750	Delayed speech and language development	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0011446	HP:0002465	Poor speech	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011446	HP:0001289	Confusion	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0011446	HP:0002354	Memory impairment	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0011446	HP:0001260	Dysarthria	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent		1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0006889	Intellectual disability, borderline	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0011446	HP:0000657	Oculomotor apraxia	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0011446	HP:0000750	Delayed speech and language development	2	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0011446	HP:0000657	Oculomotor apraxia	2	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		9
HP:0011446	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:0011446	HP:0001289	Confusion	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0011446	HP:0002354	Memory impairment	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0011446	HP:0001289	Confusion	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011446	HP:0001262	Excessive daytime somnolence	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0011446	HP:0001289	Confusion	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011446	HP:0001262	Excessive daytime somnolence	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		46
HP:0011446	HP:0001260	Dysarthria	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0011446	HP:0001259	Coma	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0011446	HP:0002342	Intellectual disability, moderate	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0011446	HP:0001289	Confusion	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0011446	HP:0002354	Memory impairment	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0011446	HP:0000657	Oculomotor apraxia	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0011446	HP:0000657	Oculomotor apraxia	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0000750	Delayed speech and language development	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0011446	HP:0000657	Oculomotor apraxia	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0011446	HP:0002342	Intellectual disability, moderate	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0011446	HP:0002465	Poor speech	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0011446	HP:0010864	Intellectual disability, severe	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0011446	HP:0001260	Dysarthria	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0001618	Dysphonia	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0001259	Coma	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		62
HP:0011446	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:0011446	HP:0001259	Coma	2	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0011446	HP:0001259	Coma	2	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040283 - Occasional		229
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0011446	HP:0000750	Delayed speech and language development	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0011446	HP:0002465	Poor speech	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.		119
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0011446	HP:0002371	Loss of speech	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0011446	HP:0001262	Excessive daytime somnolence	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		4
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011446	HP:0000750	Delayed speech and language development	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0011446	HP:0031358	Vegetative state	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0011446	HP:0001268	Mental deterioration	2	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1			3
HP:0011446	HP:0001268	Mental deterioration	2	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0011446	HP:0002168	Scanning speech	2	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040282 - Frequent		177
HP:0011446	HP:0001260	Dysarthria	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0011446	HP:0002168	Scanning speech	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0011446	HP:0000750	Delayed speech and language development	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0001256	Intellectual disability, mild	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0011446	HP:0001260	Dysarthria	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.		177
HP:0011446	HP:0000657	Oculomotor apraxia	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent		177
HP:0011446	HP:0001254	Lethargy	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0011446	HP:0001259	Coma	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0011446	HP:0001254	Lethargy	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0011446	HP:0000750	Delayed speech and language development	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0011446	HP:0001256	Intellectual disability, mild	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	HP:0040283 - Occasional		257
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0011446	HP:0001260	Dysarthria	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0011446	HP:0001268	Mental deterioration	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0011446	HP:0001256	Intellectual disability, mild	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0002381	Aphasia	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011446	HP:0001260	Dysarthria	2	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0011446	HP:0001268	Mental deterioration	2	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0011446	HP:0001268	Mental deterioration	2	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0011446	HP:0002354	Memory impairment	2	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0011446	HP:0002342	Intellectual disability, moderate	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0011446	HP:0025268	Stuttering	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011446	HP:0010864	Intellectual disability, severe	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011446	HP:0011098	Speech apraxia	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011446	HP:0000750	Delayed speech and language development	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011446	HP:0002465	Poor speech	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0025268	Stuttering	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011446	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:0011446	HP:0011098	Speech apraxia	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011446	HP:0001268	Mental deterioration	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0011446	HP:0006887	Intellectual disability, progressive	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0011446	HP:0010864	Intellectual disability, severe	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0011446	HP:0000750	Delayed speech and language development	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011446	HP:0000657	Oculomotor apraxia	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent		145
HP:0011446	HP:0001260	Dysarthria	2	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.		145
HP:0011446	HP:0001260	Dysarthria	2	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040282 - Frequent		145
HP:0011446	HP:0000750	Delayed speech and language development	2	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32			13
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0011446	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:0011446	HP:0002465	Poor speech	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0011446	HP:0001268	Mental deterioration	2	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	HP:0040283 - Occasional		6
HP:0011446	HP:0000750	Delayed speech and language development	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0002381	Aphasia	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0010864	Intellectual disability, severe	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0001260	Dysarthria	2	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0011446	HP:0001256	Intellectual disability, mild	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0011446	HP:0001260	Dysarthria	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0011446	HP:0001260	Dysarthria	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0011446	HP:0001260	Dysarthria	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0011446	HP:0007185	Loss of consciousness	2	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent		148
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0011446	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011446	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0011446	HP:0000657	Oculomotor apraxia	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011446	HP:0006887	Intellectual disability, progressive	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional		13
HP:0011446	HP:0010864	Intellectual disability, severe	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	HP:0040283 - Occasional		13
HP:0011446	HP:0000750	Delayed speech and language development	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0011446	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:0011446	HP:0001254	Lethargy	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0011446	HP:0001259	Coma	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0011446	HP:0002329	Drowsiness	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0011446	HP:0007185	Loss of consciousness	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0011446	HP:0001259	Coma	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0011446	HP:0010864	Intellectual disability, severe	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0011446	HP:0001256	Intellectual disability, mild	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0011446	HP:0002465	Poor speech	2	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.		114
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0011446	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:0011446	HP:0007185	Loss of consciousness	2	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent		730
HP:0011446	HP:0001256	Intellectual disability, mild	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040282 - Frequent		1
HP:0011446	HP:0000750	Delayed speech and language development	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0011446	HP:0001618	Dysphonia	2	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0011446	HP:0001260	Dysarthria	2	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0011446	HP:0001268	Mental deterioration	2	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0011446	HP:0000657	Oculomotor apraxia	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0011446	HP:0002342	Intellectual disability, moderate	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011446	HP:0001260	Dysarthria	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011446	HP:0011098	Speech apraxia	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0011446	HP:0000657	Oculomotor apraxia	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0011446	HP:0000657	Oculomotor apraxia	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		24
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0011446	HP:0000750	Delayed speech and language development	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011446	HP:0002465	Poor speech	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0011446	HP:0002329	Drowsiness	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0011446	HP:0010864	Intellectual disability, severe	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0011446	HP:0001618	Dysphonia	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent		38
HP:0011446	HP:0001260	Dysarthria	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.		38
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		167
HP:0011446	HP:0010864	Intellectual disability, severe	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0011446	HP:0001260	Dysarthria	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0011446	HP:0001260	Dysarthria	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0001256	Intellectual disability, mild	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011446	HP:0002342	Intellectual disability, moderate	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011446	HP:0010864	Intellectual disability, severe	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0011446	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:0011446	HP:0001289	Confusion	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0011446	HP:0001268	Mental deterioration	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011446	HP:0002465	Poor speech	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011446	HP:0010864	Intellectual disability, severe	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011446	HP:0001260	Dysarthria	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0001618	Dysphonia	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0002425	Anarthria	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0011446	HP:0000750	Delayed speech and language development	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0001256	Intellectual disability, mild	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0011446	HP:0001260	Dysarthria	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0011446	HP:0001618	Dysphonia	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0011446	HP:0000750	Delayed speech and language development	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011446	HP:0001260	Dysarthria	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011446	HP:0000750	Delayed speech and language development	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0011446	HP:0000750	Delayed speech and language development	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	.		2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0011446	HP:0001260	Dysarthria	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0002300	Mutism	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011446	HP:0002381	Aphasia	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011446	HP:0010529	Echolalia	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011446	HP:0001260	Dysarthria	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0002354	Memory impairment	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0010526	Dysgraphia	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011446	HP:0001260	Dysarthria	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0011446	HP:0001254	Lethargy	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.		19
HP:0011446	HP:0001259	Coma	2	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040283 - Occasional		5
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002381	Aphasia	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0011446	HP:0002381	Aphasia	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040283 - Occasional		134
HP:0011446	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:0011446	HP:0002381	Aphasia	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0011446	HP:0002381	Aphasia	2	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria			34
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0011446	HP:0000750	Delayed speech and language development	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0011446	HP:0000657	Oculomotor apraxia	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0011446	HP:0000750	Delayed speech and language development	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0011446	HP:0002465	Poor speech	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0011446	HP:0010864	Intellectual disability, severe	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040281 - Very frequent		16
HP:0011446	HP:0002465	Poor speech	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0011446	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:0011446	HP:0025268	Stuttering	2	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent		68
HP:0011446	HP:0010864	Intellectual disability, severe	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0011446	HP:0010864	Intellectual disability, severe	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0011446	HP:0002381	Aphasia	2	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent		75
HP:0011446	HP:0001254	Lethargy	2	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:0011446	HP:0001254	Lethargy	2	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:0011446	HP:0001268	Mental deterioration	2	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0011446	HP:0001268	Mental deterioration	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0011446	HP:0000750	Delayed speech and language development	2	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0011446	HP:0001260	Dysarthria	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0011446	HP:0010864	Intellectual disability, severe	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0011446	HP:0000750	Delayed speech and language development	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0011446	HP:0001260	Dysarthria	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0011446	HP:0010864	Intellectual disability, severe	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0010864	Intellectual disability, severe	2	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0011446	HP:0001254	Lethargy	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0011446	HP:0001254	Lethargy	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0011446	HP:0001268	Mental deterioration	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0011446	HP:0001260	Dysarthria	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	HP:0001268	Mental deterioration	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	HP:0001618	Dysphonia	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002329	Drowsiness	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0011446	HP:0001260	Dysarthria	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0011446	HP:0001618	Dysphonia	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0011446	HP:0002329	Drowsiness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0011446	HP:0001256	Intellectual disability, mild	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0011446	HP:0001268	Mental deterioration	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011446	HP:0002465	Poor speech	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0011446	HP:0000750	Delayed speech and language development	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0011446	HP:0001268	Mental deterioration	2	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant			221
HP:0011446	HP:0001268	Mental deterioration	2	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0011446	HP:0002187	Intellectual disability, profound	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002371	Loss of speech	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001254	Lethargy	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0011446	HP:0001259	Coma	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0011446	HP:0001260	Dysarthria	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0011446	HP:0001268	Mental deterioration	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011446	HP:0001260	Dysarthria	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0011446	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:0011446	HP:0001254	Lethargy	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0011446	HP:0001256	Intellectual disability, mild	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0011446	HP:0002342	Intellectual disability, moderate	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0011446	HP:0002465	Poor speech	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent		93
HP:0011446	HP:0010864	Intellectual disability, severe	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0011446	HP:0002342	Intellectual disability, moderate	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0011446	HP:0001260	Dysarthria	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0011446	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:0011446	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:0011446	HP:0001289	Confusion	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0011446	HP:0002329	Drowsiness	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0011446	HP:0001289	Confusion	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0011446	HP:0002329	Drowsiness	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0011446	HP:0002371	Loss of speech	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare		136
HP:0011446	HP:0000750	Delayed speech and language development	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011446	HP:0000750	Delayed speech and language development	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011446	HP:0001260	Dysarthria	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0011446	HP:0001260	Dysarthria	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0011446	HP:0001256	Intellectual disability, mild	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0011446	HP:0000657	Oculomotor apraxia	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0000750	Delayed speech and language development	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011446	HP:0001268	Mental deterioration	2	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002300	Mutism	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002371	Loss of speech	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002381	Aphasia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0011446	HP:0002465	Poor speech	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0010526	Dysgraphia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0010529	Echolalia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0001260	Dysarthria	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0011446	HP:0001260	Dysarthria	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0011446	HP:0010529	Echolalia	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002300	Mutism	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002381	Aphasia	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0010523	Alexia	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		140
HP:0011446	HP:0010526	Dysgraphia	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		140
HP:0011446	HP:0030391	Spoken word recognition deficit	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0001260	Dysarthria	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0002381	Aphasia	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0030217	Limb apraxia	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0002381	Aphasia	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0002465	Poor speech	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0025268	Stuttering	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0011098	Speech apraxia	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0030217	Limb apraxia	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0030391	Spoken word recognition deficit	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0000657	Oculomotor apraxia	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare		140
HP:0011446	HP:0001260	Dysarthria	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0011446	HP:0031814	Palilalia	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0031937	Tachylalia	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0011446	HP:0002381	Aphasia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0010523	Alexia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0011446	HP:0010526	Dysgraphia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0011446	HP:0030222	Visual agnosia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0011446	HP:0000658	Eyelid apraxia	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0011446	HP:0001260	Dysarthria	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0011446	HP:0001268	Mental deterioration	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0002300	Mutism	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0011446	HP:0002354	Memory impairment	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0011446	HP:0001260	Dysarthria	2	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0011446	HP:0001256	Intellectual disability, mild	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0011446	HP:0000657	Oculomotor apraxia	2	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	HP:0040284 - Very rare		1
HP:0011446	HP:0001260	Dysarthria	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0011446	HP:0001268	Mental deterioration	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0011446	HP:0001260	Dysarthria	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0011446	HP:0001268	Mental deterioration	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0011446	HP:0001618	Dysphonia	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011446	HP:0000750	Delayed speech and language development	2	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0011446	HP:0010864	Intellectual disability, severe	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0011446	HP:0001268	Mental deterioration	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011446	HP:0001259	Coma	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0011446	HP:0001259	Coma	2	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.		94
HP:0011446	HP:0001254	Lethargy	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0011446	HP:0001259	Coma	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0011446	HP:0001254	Lethargy	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0011446	HP:0001259	Coma	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0001268	Mental deterioration	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0011446	HP:0000750	Delayed speech and language development	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0011446	HP:0001618	Dysphonia	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0011446	HP:0001256	Intellectual disability, mild	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011446	HP:0001256	Intellectual disability, mild	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0011446	HP:0002300	Mutism	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0011446	HP:0002371	Loss of speech	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0011446	HP:0032588	Hand apraxia	2	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0011446	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.		950
HP:0011446	HP:0006887	Intellectual disability, progressive	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0011446	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0010864	Intellectual disability, severe	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0011446	HP:0001268	Mental deterioration	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0011446	HP:0002187	Intellectual disability, profound	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0011446	HP:0010521	Gait apraxia	2	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0011446	HP:0030217	Limb apraxia	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040282 - Frequent		950
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0011446	HP:0001260	Dysarthria	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0011446	HP:0000750	Delayed speech and language development	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011446	HP:0000750	Delayed speech and language development	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011446	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:0011446	HP:0011098	Speech apraxia	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent		74
HP:0011446	HP:0001260	Dysarthria	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0011446	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:0011446	HP:0002465	Poor speech	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0011446	HP:0000750	Delayed speech and language development	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0002187	Intellectual disability, profound	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0000750	Delayed speech and language development	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011446	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:0011446	HP:0002465	Poor speech	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0010864	Intellectual disability, severe	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.		132
HP:0011446	HP:0001289	Confusion	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0011446	HP:0002354	Memory impairment	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0011446	HP:0001259	Coma	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0011446	HP:0002354	Memory impairment	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0011446	HP:0007159	Fluctuations in consciousness	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0011446	HP:0001254	Lethargy	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011446	HP:0001259	Coma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		462
HP:0011446	HP:0001289	Confusion	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011446	HP:0032044	Decreased vigilance	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011446	HP:0000750	Delayed speech and language development	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011446	HP:0001256	Intellectual disability, mild	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0011446	HP:0001260	Dysarthria	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001618	Dysphonia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0011446	HP:0001268	Mental deterioration	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional		203
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0011446	HP:0010864	Intellectual disability, severe	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0011446	HP:0000750	Delayed speech and language development	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0011446	HP:0001268	Mental deterioration	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0011446	HP:0006887	Intellectual disability, progressive	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0011446	HP:0010864	Intellectual disability, severe	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0011446	HP:0001618	Dysphonia	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0011446	HP:0001618	Dysphonia	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0011446	HP:0001256	Intellectual disability, mild	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0011446	HP:0001256	Intellectual disability, mild	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0011446	HP:0001256	Intellectual disability, mild	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0011446	HP:0001260	Dysarthria	2	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0011446	HP:0001268	Mental deterioration	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0011446	HP:0000750	Delayed speech and language development	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0011446	HP:0002465	Poor speech	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0001256	Intellectual disability, mild	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0011446	HP:0002465	Poor speech	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0011446	HP:0000750	Delayed speech and language development	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0011446	HP:0000750	Delayed speech and language development	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011446	HP:0000750	Delayed speech and language development	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0000657	Oculomotor apraxia	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0011446	HP:0000657	Oculomotor apraxia	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0000750	Delayed speech and language development	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0001260	Dysarthria	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0011446	HP:0000657	Oculomotor apraxia	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0011446	HP:0000750	Delayed speech and language development	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011446	HP:0001256	Intellectual disability, mild	2	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		112
HP:0011446	HP:0001260	Dysarthria	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011446	HP:0002354	Memory impairment	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011446	HP:0010526	Dysgraphia	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011446	HP:0001260	Dysarthria	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011446	HP:0002354	Memory impairment	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011446	HP:0010526	Dysgraphia	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011446	HP:0001260	Dysarthria	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001618	Dysphonia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001254	Lethargy	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0011446	HP:0001259	Coma	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0011446	HP:0001254	Lethargy	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0011446	HP:0001259	Coma	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0011446	HP:0001254	Lethargy	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0011446	HP:0001268	Mental deterioration	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0011446	HP:0001289	Confusion	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0011446	HP:0002354	Memory impairment	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0011446	HP:0001254	Lethargy	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011446	HP:0001268	Mental deterioration	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011446	HP:0001289	Confusion	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011446	HP:0001254	Lethargy	2	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent		50
HP:0011446	HP:0001254	Lethargy	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0011446	HP:0001260	Dysarthria	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0011446	HP:0001260	Dysarthria	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0002465	Poor speech	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001254	Lethargy	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0011446	HP:0001259	Coma	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0011446	HP:0001254	Lethargy	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0011446	HP:0001259	Coma	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040281 - Very frequent
HP:0011446	HP:0001259	Coma	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.		1
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	HP:0002354	Memory impairment	2	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1			1
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011446	HP:0001260	Dysarthria	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0011446	HP:0001260	Dysarthria	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011446	HP:0001618	Dysphonia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0011446	HP:0001268	Mental deterioration	2	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease			11
HP:0011446	HP:0001259	Coma	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0011446	HP:0001260	Dysarthria	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011446	HP:0000657	Oculomotor apraxia	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0011446	HP:0000657	Oculomotor apraxia	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0011446	HP:0001260	Dysarthria	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0011446	HP:0001254	Lethargy	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0011446	HP:0002465	Poor speech	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0011446	HP:0000750	Delayed speech and language development	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0011446	HP:0001260	Dysarthria	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011446	HP:0002354	Memory impairment	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011446	HP:0010526	Dysgraphia	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011446	HP:0001260	Dysarthria	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011446	HP:0002354	Memory impairment	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011446	HP:0010526	Dysgraphia	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011446	HP:0000750	Delayed speech and language development	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0001256	Intellectual disability, mild	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0011446	HP:0001256	Intellectual disability, mild	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0011446	HP:0001260	Dysarthria	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0011446	HP:0010864	Intellectual disability, severe	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0011446	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:0011446	HP:0001254	Lethargy	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0011446	HP:0001268	Mental deterioration	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent		183
HP:0011446	HP:0001268	Mental deterioration	2	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA			183
HP:0011446	HP:0002465	Poor speech	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0011446	HP:0002465	Poor speech	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0011446	HP:0010864	Intellectual disability, severe	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0011446	HP:0001260	Dysarthria	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent		19
HP:0011446	HP:0000750	Delayed speech and language development	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0011446	HP:0001260	Dysarthria	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0011446	HP:0001254	Lethargy	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0011446	HP:0006887	Intellectual disability, progressive	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.		88
HP:0011446	HP:0001254	Lethargy	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0011446	HP:0002329	Drowsiness	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0011446	HP:0007185	Loss of consciousness	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0011446	HP:0001256	Intellectual disability, mild	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0011446	HP:0001260	Dysarthria	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0011446	HP:0002329	Drowsiness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0011446	HP:0001260	Dysarthria	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0011446	HP:0001256	Intellectual disability, mild	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0011446	HP:0002354	Memory impairment	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0011446	HP:0000657	Oculomotor apraxia	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0011446	HP:0000750	Delayed speech and language development	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0011446	HP:0001618	Dysphonia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0011446	HP:0001262	Excessive daytime somnolence	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0011446	HP:0001268	Mental deterioration	2	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0011446	HP:0002354	Memory impairment	2	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0011446	HP:0001260	Dysarthria	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent		75
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0011446	HP:0001254	Lethargy	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0011446	HP:0001262	Excessive daytime somnolence	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent		23
HP:0011446	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:0011446	HP:0002465	Poor speech	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011446	HP:0007185	Loss of consciousness	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0011446	HP:0010864	Intellectual disability, severe	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0011446	HP:0001268	Mental deterioration	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0011446	HP:0001254	Lethargy	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0001259	Coma	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0001289	Confusion	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0002329	Drowsiness	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0002465	Poor speech	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0007185	Loss of consciousness	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011446	HP:0010529	Echolalia	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0011446	HP:0001254	Lethargy	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0011446	HP:0001259	Coma	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0011446	HP:0001289	Confusion	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0011446	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:0011446	HP:0002465	Poor speech	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011446	HP:0002187	Intellectual disability, profound	2	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	HP:0040283 - Occasional		34
HP:0011446	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:0011446	HP:0001254	Lethargy	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0011446	HP:0002371	Loss of speech	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0011446	HP:0001259	Coma	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0011446	HP:0001260	Dysarthria	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0011446	HP:0001254	Lethargy	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011446	HP:0001268	Mental deterioration	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011446	HP:0000750	Delayed speech and language development	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0011446	HP:0001618	Dysphonia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0011446	HP:0010526	Dysgraphia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0011446	HP:0001254	Lethargy	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0011446	HP:0001268	Mental deterioration	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001254	Lethargy	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0011446	HP:0001254	Lethargy	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0011446	HP:0001268	Mental deterioration	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001254	Lethargy	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent		96
HP:0011446	HP:0002187	Intellectual disability, profound	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.		96
HP:0011446	HP:0006887	Intellectual disability, progressive	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001256	Intellectual disability, mild	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0011446	HP:0001268	Mental deterioration	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0011446	HP:0006887	Intellectual disability, progressive	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0011446	HP:0006887	Intellectual disability, progressive	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0011446	HP:0000750	Delayed speech and language development	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0011446	HP:0002465	Poor speech	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0011446	HP:0001254	Lethargy	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0011446	HP:0001260	Dysarthria	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0011446	HP:0001254	Lethargy	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0011446	HP:0001260	Dysarthria	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0011446	HP:0001260	Dysarthria	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0011446	HP:0002465	Poor speech	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0011446	HP:0001260	Dysarthria	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0011446	HP:0001260	Dysarthria	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0001254	Lethargy	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0011446	HP:0001260	Dysarthria	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011446	HP:0001268	Mental deterioration	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011446	HP:0002300	Mutism	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0011446	HP:0002465	Poor speech	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0001260	Dysarthria	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0011446	HP:0001254	Lethargy	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0011446	HP:0001254	Lethargy	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0011446	HP:0001260	Dysarthria	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0011446	HP:0001254	Lethargy	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0011446	HP:0001268	Mental deterioration	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0011446	HP:0007159	Fluctuations in consciousness	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0011446	HP:0001254	Lethargy	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0011446	HP:0001254	Lethargy	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0011446	HP:0001260	Dysarthria	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0011446	HP:0001260	Dysarthria	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0011446	HP:0001260	Dysarthria	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0011446	HP:0001260	Dysarthria	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.		39
HP:0011446	HP:0001254	Lethargy	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0011446	HP:0001254	Lethargy	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0011446	HP:0001254	Lethargy	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0011446	HP:0002300	Mutism	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0002381	Aphasia	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0010529	Echolalia	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0001254	Lethargy	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0011446	HP:0001268	Mental deterioration	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0011446	HP:0001254	Lethargy	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0011446	HP:0001260	Dysarthria	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0011446	HP:0001254	Lethargy	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0011446	HP:0002465	Poor speech	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0011446	HP:0001254	Lethargy	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0011446	HP:0001268	Mental deterioration	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0011446	HP:0007159	Fluctuations in consciousness	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0011446	HP:0001260	Dysarthria	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0011446	HP:0001254	Lethargy	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0011446	HP:0001254	Lethargy	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0011446	HP:0001260	Dysarthria	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0011446	HP:0001254	Lethargy	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0011446	HP:0001260	Dysarthria	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0001254	Lethargy	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0011446	HP:0001259	Coma	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0011446	HP:0001254	Lethargy	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0011446	HP:0001254	Lethargy	2	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0011446	HP:0001254	Lethargy	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0011446	HP:0001260	Dysarthria	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0011446	HP:0001254	Lethargy	2	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0011446	HP:0001260	Dysarthria	2	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0011446	HP:0001254	Lethargy	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0011446	HP:0001260	Dysarthria	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0011446	HP:0001260	Dysarthria	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0011446	HP:0002329	Drowsiness	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011446	HP:0001254	Lethargy	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0011446	HP:0001260	Dysarthria	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0011446	HP:0001254	Lethargy	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0011446	HP:0001254	Lethargy	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0011446	HP:0001260	Dysarthria	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0010864	Intellectual disability, severe	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0011446	HP:0001260	Dysarthria	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0011446	HP:0001260	Dysarthria	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0011446	HP:0001618	Dysphonia	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0011446	HP:0001260	Dysarthria	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0011446	HP:0001260	Dysarthria	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.		101
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0010864	Intellectual disability, severe	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	HP:0025268	Stuttering	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	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:0011446	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:0011446	HP:0002354	Memory impairment	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0011446	HP:0001256	Intellectual disability, mild	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0011446	HP:0000750	Delayed speech and language development	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0011446	HP:0001262	Excessive daytime somnolence	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0011446	HP:0002354	Memory impairment	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0011446	HP:0001260	Dysarthria	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0011446	HP:0002354	Memory impairment	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0011446	HP:0002381	Aphasia	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare		220
HP:0011446	HP:0001260	Dysarthria	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0011446	HP:0000750	Delayed speech and language development	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0011446	HP:0001256	Intellectual disability, mild	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.		20
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0011446	HP:0010864	Intellectual disability, severe	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0011446	HP:0001256	Intellectual disability, mild	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0011446	HP:0010864	Intellectual disability, severe	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0011446	HP:0000750	Delayed speech and language development	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011446	HP:0000750	Delayed speech and language development	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0011446	HP:0001259	Coma	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011446	HP:0001254	Lethargy	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0011446	HP:0001254	Lethargy	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0011446	HP:0000750	Delayed speech and language development	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0011446	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:0011446	HP:0002465	Poor speech	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0001260	Dysarthria	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0011446	HP:0001268	Mental deterioration	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0011446	HP:0001289	Confusion	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0011446	HP:0031358	Vegetative state	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional		77
HP:0011446	HP:0001268	Mental deterioration	2	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		117
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011446	HP:0010864	Intellectual disability, severe	2	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		51
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0011446	HP:0001260	Dysarthria	2	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	HP:0040283 - Occasional		51
HP:0011446	HP:0001260	Dysarthria	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0011446	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		90
HP:0011446	HP:0006887	Intellectual disability, progressive	2	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0011446	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0011446	HP:0010864	Intellectual disability, severe	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		90
HP:0011446	HP:0001260	Dysarthria	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0011446	HP:0001260	Dysarthria	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2			57
HP:0011446	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:0011446	HP:0001259	Coma	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0011446	HP:0001259	Coma	2	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0011446	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011446	HP:0001254	Lethargy	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002465	Poor speech	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011446	HP:0007301	Oromotor apraxia	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011446	HP:0001254	Lethargy	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011446	HP:0002465	Poor speech	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0007301	Oromotor apraxia	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011446	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011446	HP:0001254	Lethargy	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002465	Poor speech	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0011446	HP:0007301	Oromotor apraxia	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011446	HP:0001254	Lethargy	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002465	Poor speech	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011446	HP:0007301	Oromotor apraxia	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0000750	Delayed speech and language development	2	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0001618	Dysphonia	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011446	HP:0002465	Poor speech	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011446	HP:0011098	Speech apraxia	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011446	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:0011446	HP:0011098	Speech apraxia	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0011446	HP:0001260	Dysarthria	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0011446	HP:0001260	Dysarthria	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040281 - Very frequent		9
HP:0011446	HP:0001268	Mental deterioration	2	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease			8
HP:0011446	HP:0001260	Dysarthria	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0001268	Mental deterioration	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0011446	HP:0001268	Mental deterioration	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0007185	Loss of consciousness	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0001260	Dysarthria	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0011446	HP:0001260	Dysarthria	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011446	HP:0001260	Dysarthria	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0001268	Mental deterioration	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0001618	Dysphonia	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0002354	Memory impairment	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0001260	Dysarthria	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0001268	Mental deterioration	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0011446	HP:0001289	Confusion	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0002354	Memory impairment	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0002381	Aphasia	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040284 - Very rare		144
HP:0011446	HP:0007185	Loss of consciousness	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0031843	Bradyphrenia	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011446	HP:0001260	Dysarthria	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0011446	HP:0001268	Mental deterioration	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0011446	HP:0002371	Loss of speech	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0011446	HP:0001260	Dysarthria	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0011446	HP:0001268	Mental deterioration	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0011446	HP:0002371	Loss of speech	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0011446	HP:0000657	Oculomotor apraxia	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0011446	HP:0000657	Oculomotor apraxia	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0011446	HP:0001260	Dysarthria	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		13
HP:0011446	HP:0002381	Aphasia	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		13
HP:0011446	HP:0002381	Aphasia	2	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci			4
HP:0011446	HP:0002381	Aphasia	2	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci			7
HP:0011446	HP:0000750	Delayed speech and language development	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0011446	HP:0001268	Mental deterioration	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011446	HP:0002354	Memory impairment	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011446	HP:0000750	Delayed speech and language development	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0001256	Intellectual disability, mild	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011446	HP:0001260	Dysarthria	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0011446	HP:0001268	Mental deterioration	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0011446	HP:0001268	Mental deterioration	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.		102
HP:0011446	HP:0001260	Dysarthria	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0011446	HP:0000750	Delayed speech and language development	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0006889	Intellectual disability, borderline	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011446	HP:0010864	Intellectual disability, severe	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0011446	HP:0001256	Intellectual disability, mild	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0011446	HP:0010864	Intellectual disability, severe	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0011446	HP:0000750	Delayed speech and language development	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0025268	Stuttering	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0010864	Intellectual disability, severe	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0011446	HP:0010864	Intellectual disability, severe	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0011446	HP:0002381	Aphasia	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0011446	HP:0000750	Delayed speech and language development	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011446	HP:0000750	Delayed speech and language development	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011446	HP:0001260	Dysarthria	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0011446	HP:0002342	Intellectual disability, moderate	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0011446	HP:0001256	Intellectual disability, mild	2	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040284 - Very rare
HP:0011446	HP:0001256	Intellectual disability, mild	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0002300	Mutism	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0002371	Loss of speech	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0032588	Hand apraxia	2	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0011446	HP:0001254	Lethargy	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0011446	HP:0001260	Dysarthria	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0011446	HP:0002465	Poor speech	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0011446	HP:0000750	Delayed speech and language development	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0006889	Intellectual disability, borderline	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011446	HP:0000750	Delayed speech and language development	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0011446	HP:0000750	Delayed speech and language development	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0011446	HP:0001262	Excessive daytime somnolence	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0011446	HP:0000750	Delayed speech and language development	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0011446	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:0011446	HP:0002465	Poor speech	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002381	Aphasia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011446	HP:0000750	Delayed speech and language development	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011446	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:0011446	HP:0002465	Poor speech	2	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:0011446	HP:0002187	Intellectual disability, profound	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.		201
HP:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0011446	HP:0010864	Intellectual disability, severe	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0011446	HP:0000750	Delayed speech and language development	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0011446	HP:0001268	Mental deterioration	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0011446	HP:0001260	Dysarthria	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0011446	HP:0001260	Dysarthria	2	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent		163
HP:0011446	HP:0001260	Dysarthria	2	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.		62
HP:0011446	HP:0001256	Intellectual disability, mild	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0011446	HP:0001254	Lethargy	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0011446	HP:0001259	Coma	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		2
HP:0011446	HP:0002354	Memory impairment	2	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1			2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011446	HP:0000750	Delayed speech and language development	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0011446	HP:0011098	Speech apraxia	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0011446	HP:0000750	Delayed speech and language development	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent		641
HP:0011446	HP:0002354	Memory impairment	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent		641
HP:0011446	HP:0010864	Intellectual disability, severe	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent		641
HP:0011446	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:0011446	HP:0002465	Poor speech	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0010864	Intellectual disability, severe	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0011446	HP:0001260	Dysarthria	2	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0011446	HP:0001260	Dysarthria	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0011446	HP:0001260	Dysarthria	2	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0011446	HP:0001268	Mental deterioration	2	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0011446	HP:0000658	Eyelid apraxia	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0001260	Dysarthria	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0001268	Mental deterioration	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0001618	Dysphonia	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0031814	Palilalia	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0001268	Mental deterioration	2	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0011446	HP:0000750	Delayed speech and language development	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011446	HP:0001254	Lethargy	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0011446	HP:0002168	Scanning speech	2	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040282 - Frequent		194
HP:0011446	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		63
HP:0011446	HP:0001254	Lethargy	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0011446	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040282 - Frequent		63
HP:0011446	HP:0010864	Intellectual disability, severe	2	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		63
HP:0011446	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:0011446	HP:0001254	Lethargy	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0011446	HP:0001254	Lethargy	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0011446	HP:0001259	Coma	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0011446	HP:0001254	Lethargy	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0011446	HP:0001259	Coma	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0011446	HP:0002187	Intellectual disability, profound	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011446	HP:0001260	Dysarthria	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0011446	HP:0001260	Dysarthria	2	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset			5
HP:0011446	HP:0001260	Dysarthria	2	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent		5
HP:0011446	HP:0001268	Mental deterioration	2	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0011446	HP:0001268	Mental deterioration	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0011446	HP:0002354	Memory impairment	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0011446	HP:0001260	Dysarthria	2	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration	HP:0040281 - Very frequent		75
HP:0011446	HP:0002354	Memory impairment	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011446	HP:0001260	Dysarthria	2	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.		75
HP:0011446	HP:0001260	Dysarthria	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0011446	HP:0001268	Mental deterioration	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0011446	HP:0002354	Memory impairment	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0011446	HP:0001260	Dysarthria	2	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0011446	HP:0001268	Mental deterioration	2	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0011446	HP:0001262	Excessive daytime somnolence	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0011446	HP:0002354	Memory impairment	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0011446	HP:0001268	Mental deterioration	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0011446	HP:0002354	Memory impairment	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0011446	HP:0001268	Mental deterioration	2	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0011446	HP:0001268	Mental deterioration	2	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0011446	HP:0001260	Dysarthria	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0011446	HP:0010864	Intellectual disability, severe	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0011446	HP:0001254	Lethargy	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0011446	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:0011446	HP:0002329	Drowsiness	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0011446	HP:0001259	Coma	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.		52
HP:0011446	HP:0001260	Dysarthria	2	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent		52
HP:0011446	HP:0010529	Echolalia	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0011446	HP:0001260	Dysarthria	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0011446	HP:0010864	Intellectual disability, severe	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0011446	HP:0000750	Delayed speech and language development	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011446	HP:0006887	Intellectual disability, progressive	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0011446	HP:0010864	Intellectual disability, severe	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0011446	HP:0000750	Delayed speech and language development	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent		75
HP:0011446	HP:0001260	Dysarthria	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0011446	HP:0001256	Intellectual disability, mild	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0011446	HP:0001260	Dysarthria	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0011446	HP:0000657	Oculomotor apraxia	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0011446	HP:0001260	Dysarthria	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0011446	HP:0010864	Intellectual disability, severe	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0011446	HP:0001260	Dysarthria	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0011446	HP:0010864	Intellectual disability, severe	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0011446	HP:0001260	Dysarthria	2	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0011446	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:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0010864	Intellectual disability, severe	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0011446	HP:0000657	Oculomotor apraxia	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011446	HP:0010864	Intellectual disability, severe	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011446	HP:0000657	Oculomotor apraxia	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011446	HP:0010864	Intellectual disability, severe	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0011446	HP:0001260	Dysarthria	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0011446	HP:0001260	Dysarthria	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent		15
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0011446	HP:0001618	Dysphonia	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0011446	HP:0007301	Oromotor apraxia	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.		4
HP:0011446	HP:0002354	Memory impairment	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0011446	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:0011446	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:0011446	HP:0031358	Vegetative state	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0001254	Lethargy	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional		46
HP:0011446	HP:0002465	Poor speech	2	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.		1
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002329	Drowsiness	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0000750	Delayed speech and language development	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0002187	Intellectual disability, profound	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0002465	Poor speech	2	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011446	HP:0000750	Delayed speech and language development	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011446	HP:0000750	Delayed speech and language development	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011446	HP:0002187	Intellectual disability, profound	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0011446	HP:0000750	Delayed speech and language development	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0000750	Delayed speech and language development	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0002300	Mutism	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001256	Intellectual disability, mild	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011446	HP:0010864	Intellectual disability, severe	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0011446	HP:0001260	Dysarthria	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011446	HP:0002354	Memory impairment	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011446	HP:0010526	Dysgraphia	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011446	HP:0001262	Excessive daytime somnolence	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0011446	HP:0002354	Memory impairment	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0011446	HP:0000750	Delayed speech and language development	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0011446	HP:0002187	Intellectual disability, profound	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0011446	HP:0001260	Dysarthria	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0011446	HP:0000657	Oculomotor apraxia	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		11
HP:0011446	HP:0001268	Mental deterioration	2	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset			55
HP:0011446	HP:0001268	Mental deterioration	2	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0011446	HP:0001256	Intellectual disability, mild	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0011446	HP:0000658	Eyelid apraxia	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0011446	HP:0001260	Dysarthria	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0011446	HP:0001268	Mental deterioration	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0011446	HP:0001268	Mental deterioration	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent		133
HP:0011446	HP:0031358	Vegetative state	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0011446	HP:0001268	Mental deterioration	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0011446	HP:0000658	Eyelid apraxia	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0011446	HP:0001260	Dysarthria	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0011446	HP:0001268	Mental deterioration	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease			50
HP:0011446	HP:0000750	Delayed speech and language development	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011446	HP:0001254	Lethargy	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0011446	HP:0002465	Poor speech	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0011446	HP:0007301	Oromotor apraxia	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.		2
HP:0011446	HP:0002300	Mutism	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011446	HP:0002381	Aphasia	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011446	HP:0010529	Echolalia	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040282 - Frequent		4
HP:0011446	HP:0001268	Mental deterioration	2	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040283 - Occasional		60
HP:0011446	HP:0000750	Delayed speech and language development	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0001260	Dysarthria	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0001268	Mental deterioration	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0002168	Scanning speech	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0011446	HP:0001268	Mental deterioration	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011446	HP:0002381	Aphasia	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011446	HP:0032044	Decreased vigilance	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011446	HP:0032588	Hand apraxia	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011446	HP:0001260	Dysarthria	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0011446	HP:0001260	Dysarthria	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0011446	HP:0001260	Dysarthria	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional		60
HP:0011446	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:0011446	HP:0002465	Poor speech	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011446	HP:0000750	Delayed speech and language development	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0011446	HP:0000657	Oculomotor apraxia	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0011446	HP:0001268	Mental deterioration	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0000750	Delayed speech and language development	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0011446	HP:0001260	Dysarthria	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0011446	HP:0000750	Delayed speech and language development	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0011446	HP:0001260	Dysarthria	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011446	HP:0002354	Memory impairment	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011446	HP:0010526	Dysgraphia	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011446	HP:0001260	Dysarthria	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011446	HP:0002354	Memory impairment	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011446	HP:0010526	Dysgraphia	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011446	HP:0001260	Dysarthria	2	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.		66
HP:0011446	HP:0000657	Oculomotor apraxia	2	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.		244
HP:0011446	HP:0000657	Oculomotor apraxia	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0011446	HP:0001260	Dysarthria	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0011446	HP:0010864	Intellectual disability, severe	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0011446	HP:0001256	Intellectual disability, mild	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0011446	HP:0001256	Intellectual disability, mild	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0011446	HP:0002168	Scanning speech	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.		103
HP:0011446	HP:0001268	Mental deterioration	2	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0011446	HP:0001260	Dysarthria	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011446	HP:0000657	Oculomotor apraxia	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0011446	HP:0001260	Dysarthria	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0011446	HP:0001260	Dysarthria	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0011446	HP:0002425	Anarthria	2	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		6
HP:0011446	HP:0001268	Mental deterioration	2	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0011446	HP:0000750	Delayed speech and language development	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0011446	HP:0010864	Intellectual disability, severe	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0011446	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:0011446	HP:0001259	Coma	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0011446	HP:0001254	Lethargy	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0011446	HP:0001268	Mental deterioration	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0011446	HP:0001268	Mental deterioration	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0011446	HP:0001618	Dysphonia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040283 - Occasional		464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0011446	HP:0001268	Mental deterioration	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0011446	HP:0001260	Dysarthria	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0011446	HP:0002354	Memory impairment	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		464
HP:0011446	HP:0001254	Lethargy	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0011446	HP:0001260	Dysarthria	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0011446	HP:0002381	Aphasia	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011446	HP:0002381	Aphasia	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011446	HP:0000750	Delayed speech and language development	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011446	HP:0002381	Aphasia	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011446	HP:0001260	Dysarthria	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0011446	HP:0001289	Confusion	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011446	HP:0002342	Intellectual disability, moderate	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0011446	HP:0001260	Dysarthria	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0011446	HP:0000750	Delayed speech and language development	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0001259	Coma	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0001268	Mental deterioration	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	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:0011446	HP:0001262	Excessive daytime somnolence	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0011446	HP:0001256	Intellectual disability, mild	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0011446	HP:0001260	Dysarthria	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011446	HP:0011098	Speech apraxia	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0000750	Delayed speech and language development	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0010864	Intellectual disability, severe	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001259	Coma	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare		41
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0011446	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:0011446	HP:0002465	Poor speech	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011446	HP:0010864	Intellectual disability, severe	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0011446	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:0011446	HP:0002465	Poor speech	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0011446	HP:0001260	Dysarthria	2	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0011446	HP:0001268	Mental deterioration	2	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0011446	HP:0001268	Mental deterioration	2	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12			5
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011446	HP:0001268	Mental deterioration	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0011446	HP:0002371	Loss of speech	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0011446	HP:0001260	Dysarthria	2	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040282 - Frequent		1
HP:0011446	HP:0001268	Mental deterioration	2	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001289	Confusion	2	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional		1
HP:0011446	HP:0002300	Mutism	2	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0011446	HP:0001268	Mental deterioration	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0011446	HP:0002300	Mutism	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0011446	HP:0001254	Lethargy	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011446	HP:0001268	Mental deterioration	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011446	HP:0001289	Confusion	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011446	HP:0001260	Dysarthria	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0011446	HP:0001259	Coma	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		58
HP:0011446	HP:0001259	Coma	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.		58
HP:0011446	HP:0001260	Dysarthria	2	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.		133
HP:0011446	HP:0001260	Dysarthria	2	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent		133
HP:0011446	HP:0001268	Mental deterioration	2	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0011446	HP:0002354	Memory impairment	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0011446	HP:0002354	Memory impairment	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011446	HP:0000750	Delayed speech and language development	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0011098	Speech apraxia	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0011446	HP:0001268	Mental deterioration	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0011446	HP:0002354	Memory impairment	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0011446	HP:0001260	Dysarthria	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0011446	HP:0001268	Mental deterioration	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0011446	HP:0002354	Memory impairment	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0011446	HP:0001260	Dysarthria	2	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0011446	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:0011446	HP:0002465	Poor speech	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0011446	HP:0000750	Delayed speech and language development	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0011446	HP:0001260	Dysarthria	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0011446	HP:0001260	Dysarthria	2	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0011446	HP:0001618	Dysphonia	2	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0011446	HP:0001618	Dysphonia	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0011446	HP:0001289	Confusion	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0011446	HP:0002354	Memory impairment	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0011446	HP:0002381	Aphasia	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0011446	HP:0002354	Memory impairment	2	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0011446	HP:0002354	Memory impairment	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent		69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0011446	HP:0002354	Memory impairment	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0011446	HP:0001260	Dysarthria	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0001289	Confusion	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0011446	HP:0002354	Memory impairment	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO			69
HP:0011446	HP:0001268	Mental deterioration	2	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features			69
HP:0011446	HP:0000750	Delayed speech and language development	2	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0011446	HP:0001260	Dysarthria	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0011446	HP:0001260	Dysarthria	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0001254	Lethargy	2	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:0011446	HP:0002354	Memory impairment	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011446	HP:0001260	Dysarthria	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0011446	HP:0001618	Dysphonia	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0011446	HP:0000750	Delayed speech and language development	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0011446	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:0011446	HP:0002300	Mutism	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0011446	HP:0001262	Excessive daytime somnolence	2	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional		49
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011446	HP:0001259	Coma	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0011446	HP:0001260	Dysarthria	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0011446	HP:0001289	Confusion	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0011446	HP:0002381	Aphasia	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0011446	HP:0032044	Decreased vigilance	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0010864	Intellectual disability, severe	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0001268	Mental deterioration	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0011446	HP:0001268	Mental deterioration	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0031358	Vegetative state	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0001260	Dysarthria	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0011446	HP:0001268	Mental deterioration	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0011446	HP:0002371	Loss of speech	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0011446	HP:0001260	Dysarthria	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0011446	HP:0001268	Mental deterioration	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0002354	Memory impairment	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0011446	HP:0002371	Loss of speech	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0011446	HP:0031358	Vegetative state	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		81
HP:0011446	HP:0001260	Dysarthria	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0011446	HP:0001268	Mental deterioration	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0002371	Loss of speech	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0011446	HP:0031358	Vegetative state	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040284 - Very rare		81
HP:0011446	HP:0001260	Dysarthria	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0011446	HP:0002371	Loss of speech	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0011446	HP:0031358	Vegetative state	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040284 - Very rare		81
HP:0011446	HP:0001260	Dysarthria	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0011446	HP:0002354	Memory impairment	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002300	Mutism	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		241
HP:0011446	HP:0002354	Memory impairment	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002371	Loss of speech	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002381	Aphasia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0011446	HP:0002465	Poor speech	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0010526	Dysgraphia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0010529	Echolalia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0000657	Oculomotor apraxia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0001289	Confusion	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0011446	HP:0002354	Memory impairment	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0011446	HP:0002381	Aphasia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0010525	Finger agnosia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0010526	Dysgraphia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0011446	HP:0010529	Echolalia	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002300	Mutism	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		241
HP:0011446	HP:0002354	Memory impairment	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002381	Aphasia	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0010523	Alexia	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		241
HP:0011446	HP:0010526	Dysgraphia	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		241
HP:0011446	HP:0030391	Spoken word recognition deficit	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0011446	HP:0002381	Aphasia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0010523	Alexia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0011446	HP:0010526	Dysgraphia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0011446	HP:0030222	Visual agnosia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0001268	Mental deterioration	2	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0002354	Memory impairment	2	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0001268	Mental deterioration	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0011446	HP:0000657	Oculomotor apraxia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0001268	Mental deterioration	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0001289	Confusion	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0011446	HP:0002354	Memory impairment	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0011446	HP:0002381	Aphasia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0010525	Finger agnosia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0010526	Dysgraphia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0000750	Delayed speech and language development	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0010864	Intellectual disability, severe	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0010864	Intellectual disability, severe	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011446	HP:0000750	Delayed speech and language development	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011446	HP:0001254	Lethargy	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002465	Poor speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011446	HP:0007301	Oromotor apraxia	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011446	HP:0001254	Lethargy	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011446	HP:0002465	Poor speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0007301	Oromotor apraxia	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011446	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011446	HP:0001254	Lethargy	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002465	Poor speech	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0011446	HP:0007301	Oromotor apraxia	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011446	HP:0001254	Lethargy	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002465	Poor speech	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011446	HP:0007301	Oromotor apraxia	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0000750	Delayed speech and language development	2	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011446	HP:0002342	Intellectual disability, moderate	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0011446	HP:0010864	Intellectual disability, severe	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0011446	HP:0001256	Intellectual disability, mild	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011446	HP:0001256	Intellectual disability, mild	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0011446	HP:0001256	Intellectual disability, mild	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0011446	HP:0001260	Dysarthria	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002329	Drowsiness	2	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0011446	HP:0001262	Excessive daytime somnolence	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0011446	HP:0001268	Mental deterioration	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011446	HP:0006887	Intellectual disability, progressive	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0011446	HP:0000750	Delayed speech and language development	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011446	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:0011446	HP:0010529	Echolalia	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011446	HP:0000750	Delayed speech and language development	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0011446	HP:0001260	Dysarthria	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.		1
HP:0011446	HP:0000750	Delayed speech and language development	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0011446	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:0011446	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:0011446	HP:0011098	Speech apraxia	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0011446	HP:0002187	Intellectual disability, profound	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0000750	Delayed speech and language development	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0011446	HP:0000750	Delayed speech and language development	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0011446	HP:0002465	Poor speech	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0011446	HP:0001268	Mental deterioration	2	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0011446	HP:0000750	Delayed speech and language development	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0011446	HP:0000750	Delayed speech and language development	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0002187	Intellectual disability, profound	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0011446	HP:0001268	Mental deterioration	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0011446	HP:0001256	Intellectual disability, mild	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0011446	HP:0001260	Dysarthria	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0011446	HP:0001268	Mental deterioration	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0011446	HP:0002465	Poor speech	2	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69			135
HP:0011446	HP:0000750	Delayed speech and language development	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011446	HP:0006887	Intellectual disability, progressive	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0000750	Delayed speech and language development	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0011446	HP:0000750	Delayed speech and language development	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0010864	Intellectual disability, severe	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0000750	Delayed speech and language development	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0002381	Aphasia	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0011446	HP:0010529	Echolalia	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0011098	Speech apraxia	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0011446	HP:0000750	Delayed speech and language development	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	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:0011446	HP:0001259	Coma	2	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.		57
HP:0011446	HP:0001259	Coma	2	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040281 - Very frequent		57
HP:0011446	HP:0001260	Dysarthria	2	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0011446	HP:0001262	Excessive daytime somnolence	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0011446	HP:0002329	Drowsiness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0011446	HP:0001260	Dysarthria	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0011446	HP:0001618	Dysphonia	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0011446	HP:0000750	Delayed speech and language development	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0001254	Lethargy	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011446	HP:0001260	Dysarthria	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001268	Mental deterioration	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011446	HP:0001268	Mental deterioration	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11			2
HP:0011446	HP:0001256	Intellectual disability, mild	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional		87
HP:0011446	HP:0001260	Dysarthria	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0011446	HP:0002354	Memory impairment	2	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional		3
HP:0011446	HP:0002381	Aphasia	2	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040282 - Frequent		334
HP:0011446	HP:0000750	Delayed speech and language development	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0011446	HP:0001260	Dysarthria	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0011446	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:0011446	HP:0002465	Poor speech	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0011446	HP:0001260	Dysarthria	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011446	HP:0001618	Dysphonia	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0011446	HP:0001618	Dysphonia	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001260	Dysarthria	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0011446	HP:0001260	Dysarthria	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0010864	Intellectual disability, severe	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0011446	HP:0001260	Dysarthria	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare		38
HP:0011446	HP:0001260	Dysarthria	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare		26
HP:0011446	HP:0001260	Dysarthria	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare		34
HP:0011446	HP:0000750	Delayed speech and language development	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0011446	HP:0001260	Dysarthria	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011446	HP:0002465	Poor speech	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0011446	HP:0000750	Delayed speech and language development	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011446	HP:0002465	Poor speech	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011446	HP:0000750	Delayed speech and language development	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0011446	HP:0001254	Lethargy	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0011446	HP:0001260	Dysarthria	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0011446	HP:0001268	Mental deterioration	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0002354	Memory impairment	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0001260	Dysarthria	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		33
HP:0011446	HP:0002371	Loss of speech	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0002371	Loss of speech	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		60
HP:0011446	HP:0002371	Loss of speech	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0011446	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:0011446	HP:0002465	Poor speech	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	.		37
HP:0011446	HP:0001260	Dysarthria	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011446	HP:0001618	Dysphonia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0011446	HP:0000750	Delayed speech and language development	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011446	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:0011446	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:0011446	HP:0011098	Speech apraxia	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0011446	HP:0001260	Dysarthria	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0011446	HP:0010864	Intellectual disability, severe	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011446	HP:0001260	Dysarthria	2	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.		10
HP:0011446	HP:0001268	Mental deterioration	2	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0011446	HP:0001268	Mental deterioration	2	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0011446	HP:0001260	Dysarthria	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0011446	HP:0001260	Dysarthria	2	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0011446	HP:0001268	Mental deterioration	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0007185	Loss of consciousness	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0001256	Intellectual disability, mild	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0011446	HP:0002342	Intellectual disability, moderate	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0011446	HP:0002187	Intellectual disability, profound	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002371	Loss of speech	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011446	HP:0001268	Mental deterioration	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0010864	Intellectual disability, severe	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0001268	Mental deterioration	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0011446	HP:0010864	Intellectual disability, severe	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0011446	HP:0000657	Oculomotor apraxia	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0011446	HP:0000657	Oculomotor apraxia	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0011446	HP:0000657	Oculomotor apraxia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0011446	HP:0001260	Dysarthria	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.		18
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0011446	HP:0001254	Lethargy	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0011446	HP:0001254	Lethargy	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0011446	HP:0001254	Lethargy	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0001254	Lethargy	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		11
HP:0011446	HP:0001254	Lethargy	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		40
HP:0011446	HP:0001254	Lethargy	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		26
HP:0011446	HP:0001254	Lethargy	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011446	HP:0001254	Lethargy	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		5
HP:0011446	HP:0001254	Lethargy	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		42
HP:0011446	HP:0001254	Lethargy	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0001260	Dysarthria	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011446	HP:0002354	Memory impairment	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011446	HP:0010526	Dysgraphia	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011446	HP:0001254	Lethargy	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		22
HP:0011446	HP:0001254	Lethargy	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0011446	HP:0001254	Lethargy	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0001254	Lethargy	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0001254	Lethargy	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		3
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19			65
HP:0011446	HP:0001254	Lethargy	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		20
HP:0011446	HP:0001260	Dysarthria	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001256	Intellectual disability, mild	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0001260	Dysarthria	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0011446	HP:0001268	Mental deterioration	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0002354	Memory impairment	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0001254	Lethargy	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0011446	HP:0001260	Dysarthria	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0011446	HP:0001268	Mental deterioration	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0011446	HP:0001268	Mental deterioration	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0011446	HP:0001260	Dysarthria	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.		125
HP:0011446	HP:0001618	Dysphonia	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA			2
HP:0011446	HP:0001260	Dysarthria	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0011446	HP:0002465	Poor speech	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent		113
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0011446	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:0011446	HP:0002465	Poor speech	2	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	.		113
HP:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0001260	Dysarthria	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0011446	HP:0000750	Delayed speech and language development	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0011446	HP:0001260	Dysarthria	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0011446	HP:0001618	Dysphonia	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0011446	HP:0001254	Lethargy	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional		1200
HP:0011446	HP:0001254	Lethargy	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0011446	HP:0001289	Confusion	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0011446	HP:0001260	Dysarthria	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0011446	HP:0001260	Dysarthria	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0011446	HP:0002168	Scanning speech	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0011446	HP:0001260	Dysarthria	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0011446	HP:0001260	Dysarthria	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0011446	HP:0002187	Intellectual disability, profound	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		55
HP:0011446	HP:0002371	Loss of speech	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0011446	HP:0001256	Intellectual disability, mild	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0011446	HP:0002371	Loss of speech	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0011446	HP:0002465	Poor speech	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0011446	HP:0000750	Delayed speech and language development	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0001260	Dysarthria	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	HP:0010864	Intellectual disability, severe	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	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:0011446	HP:0002546	Incomprehensible speech	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0010864	Intellectual disability, severe	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040281 - Very frequent		34
HP:0011446	HP:0000750	Delayed speech and language development	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0011446	HP:0001618	Dysphonia	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011446	HP:0001260	Dysarthria	2	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.		77
HP:0011446	HP:0001260	Dysarthria	2	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent		77
HP:0011446	HP:0001268	Mental deterioration	2	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0001268	Mental deterioration	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0011446	HP:0010864	Intellectual disability, severe	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0011446	HP:0001259	Coma	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0011446	HP:0001260	Dysarthria	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0011446	HP:0001289	Confusion	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0011446	HP:0002381	Aphasia	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0011446	HP:0032044	Decreased vigilance	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0011446	HP:0001268	Mental deterioration	2	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0011446	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:0011446	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:0011446	HP:0006889	Intellectual disability, borderline	2	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0011446	HP:0002329	Drowsiness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0011446	HP:0001260	Dysarthria	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		1134
HP:0011446	HP:0002381	Aphasia	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		1134
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0011446	HP:0001260	Dysarthria	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0011446	HP:0006889	Intellectual disability, borderline	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0011446	HP:0002187	Intellectual disability, profound	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0011446	HP:0010864	Intellectual disability, severe	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0011446	HP:0000750	Delayed speech and language development	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011446	HP:0001260	Dysarthria	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:0011446	HP:0001254	Lethargy	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011446	HP:0001268	Mental deterioration	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0011446	HP:0007159	Fluctuations in consciousness	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0011446	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:0011446	HP:0025268	Stuttering	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SDCCAG8 CL E G H	10806	10671	OMIM:613615	SENIOR-LOKEN SYNDROME 7; SLSN7			61
HP:0011446	HP:0001618	Dysphonia	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0011446	HP:0000750	Delayed speech and language development	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0001268	Mental deterioration	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	HP:0001260	Dysarthria	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0011446	HP:0010864	Intellectual disability, severe	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0011446	HP:0000750	Delayed speech and language development	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0001268	Mental deterioration	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	HP:0001618	Dysphonia	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0011446	HP:0001618	Dysphonia	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0011446	HP:0000750	Delayed speech and language development	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	HP:0001268	Mental deterioration	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	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:0011446	HP:0001618	Dysphonia	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0011446	HP:0001618	Dysphonia	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0011446	HP:0001618	Dysphonia	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0011446	HP:0000750	Delayed speech and language development	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0001268	Mental deterioration	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	HP:0001618	Dysphonia	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0011446	HP:0000750	Delayed speech and language development	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0001260	Dysarthria	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011446	HP:0001618	Dysphonia	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0011446	HP:0000750	Delayed speech and language development	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0001256	Intellectual disability, mild	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0001260	Dysarthria	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011446	HP:0001260	Dysarthria	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0011446	HP:0001260	Dysarthria	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011446	HP:0002354	Memory impairment	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011446	HP:0010526	Dysgraphia	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011446	HP:0010864	Intellectual disability, severe	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0011446	HP:0000750	Delayed speech and language development	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0010864	Intellectual disability, severe	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0011446	HP:0002187	Intellectual disability, profound	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0011446	HP:0001268	Mental deterioration	2	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0011446	HP:0000750	Delayed speech and language development	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0011446	HP:0002465	Poor speech	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002300	Mutism	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040282 - Frequent		143
HP:0011446	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:0011446	HP:0002546	Incomprehensible speech	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0011446	HP:0002381	Aphasia	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0011446	HP:0001256	Intellectual disability, mild	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0011446	HP:0010864	Intellectual disability, severe	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		162
HP:0011446	HP:0000657	Oculomotor apraxia	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0011446	HP:0001260	Dysarthria	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0011446	HP:0000750	Delayed speech and language development	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0011446	HP:0001256	Intellectual disability, mild	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0011098	Speech apraxia	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.		53
HP:0011446	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011446	HP:0001254	Lethargy	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002465	Poor speech	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011446	HP:0007301	Oromotor apraxia	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011446	HP:0001254	Lethargy	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011446	HP:0002465	Poor speech	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0007301	Oromotor apraxia	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011446	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011446	HP:0001254	Lethargy	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002465	Poor speech	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0011446	HP:0007301	Oromotor apraxia	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011446	HP:0001254	Lethargy	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002465	Poor speech	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011446	HP:0007301	Oromotor apraxia	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0000750	Delayed speech and language development	2	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011446	HP:0001256	Intellectual disability, mild	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	HP:0031358	Vegetative state	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0011446	HP:0002425	Anarthria	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0011446	HP:0000750	Delayed speech and language development	2	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011446	HP:0001254	Lethargy	2	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0011446	HP:0000750	Delayed speech and language development	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011446	HP:0001260	Dysarthria	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0011446	HP:0001618	Dysphonia	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0011446	HP:0001260	Dysarthria	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040282 - Frequent		40
HP:0011446	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:0011446	HP:0001254	Lethargy	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	HP:0001256	Intellectual disability, mild	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0011446	HP:0010864	Intellectual disability, severe	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0002465	Poor speech	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0007301	Oromotor apraxia	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0001256	Intellectual disability, mild	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.		2
HP:0011446	HP:0001268	Mental deterioration	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0002329	Drowsiness	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.		2
HP:0011446	HP:0001268	Mental deterioration	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0001260	Dysarthria	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0011446	HP:0002187	Intellectual disability, profound	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0006887	Intellectual disability, progressive	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0011446	HP:0001260	Dysarthria	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0011446	HP:0001260	Dysarthria	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0011446	HP:0001260	Dysarthria	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0011446	HP:0001618	Dysphonia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0011446	HP:0001254	Lethargy	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent		55
HP:0011446	HP:0001260	Dysarthria	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0011446	HP:0001289	Confusion	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0011446	HP:0002329	Drowsiness	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0011446	HP:0002465	Poor speech	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0011446	HP:0007185	Loss of consciousness	2	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0011446	HP:0001260	Dysarthria	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0011446	HP:0001254	Lethargy	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0001259	Coma	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0001260	Dysarthria	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0001289	Confusion	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0002300	Mutism	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0002371	Loss of speech	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	HP:0001254	Lethargy	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0011446	HP:0002187	Intellectual disability, profound	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011446	HP:0000657	Oculomotor apraxia	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0011446	HP:0001268	Mental deterioration	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0011446	HP:0001260	Dysarthria	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.		63
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0011446	HP:0001268	Mental deterioration	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0011446	HP:0002354	Memory impairment	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0011446	HP:0001254	Lethargy	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0011446	HP:0001259	Coma	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0011446	HP:0001289	Confusion	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0011446	HP:0001289	Confusion	2	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0011446	HP:0001618	Dysphonia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0011446	HP:0001618	Dysphonia	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0011446	HP:0001254	Lethargy	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0001259	Coma	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0011446	HP:0001289	Confusion	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0002329	Drowsiness	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0002354	Memory impairment	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0007159	Fluctuations in consciousness	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0010529	Echolalia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0011446	HP:0001259	Coma	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0011446	HP:0001289	Confusion	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0011446	HP:0001254	Lethargy	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0011446	HP:0001254	Lethargy	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0001259	Coma	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional		88
HP:0011446	HP:0001259	Coma	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0011446	HP:0001289	Confusion	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0001289	Confusion	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0011446	HP:0011098	Speech apraxia	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011446	HP:0001254	Lethargy	2	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0011446	HP:0001254	Lethargy	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0011446	HP:0001254	Lethargy	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0011446	HP:0001259	Coma	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0011446	HP:0001259	Coma	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0011446	HP:0001254	Lethargy	2	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0011446	HP:0001256	Intellectual disability, mild	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001254	Lethargy	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0011446	HP:0001260	Dysarthria	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0011446	HP:0001256	Intellectual disability, mild	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		274
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		274
HP:0011446	HP:0001256	Intellectual disability, mild	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0011446	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:0011446	HP:0001254	Lethargy	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0011446	HP:0001260	Dysarthria	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0011446	HP:0001289	Confusion	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0011446	HP:0001260	Dysarthria	2	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.		255
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	HP:0001254	Lethargy	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	HP:0001260	Dysarthria	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	HP:0001289	Confusion	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent		255
HP:0011446	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:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0011446	HP:0001268	Mental deterioration	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		1
HP:0011446	HP:0002300	Mutism	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0011446	HP:0002354	Memory impairment	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0011446	HP:0031843	Bradyphrenia	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0011446	HP:0001260	Dysarthria	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0011446	HP:0001260	Dysarthria	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011446	HP:0000657	Oculomotor apraxia	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.		1
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0011446	HP:0002465	Poor speech	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0006887	Intellectual disability, progressive	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0011446	HP:0010529	Echolalia	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc			71
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0002465	Poor speech	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0001268	Mental deterioration	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0001254	Lethargy	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0011446	HP:0002187	Intellectual disability, profound	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0011446	HP:0002187	Intellectual disability, profound	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent		11
HP:0011446	HP:0002465	Poor speech	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0001268	Mental deterioration	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.		2
HP:0011446	HP:0001254	Lethargy	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.		109
HP:0011446	HP:0001254	Lethargy	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0011446	HP:0001254	Lethargy	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0011446	HP:0001254	Lethargy	2	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0011446	HP:0001618	Dysphonia	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0011446	HP:0001618	Dysphonia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0011446	HP:0011098	Speech apraxia	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011446	HP:0001268	Mental deterioration	2	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011446	HP:0001254	Lethargy	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional		104
HP:0011446	HP:0001259	Coma	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0011446	HP:0001259	Coma	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional		104
HP:0011446	HP:0001260	Dysarthria	2	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.		2
HP:0011446	HP:0000750	Delayed speech and language development	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011446	HP:0002187	Intellectual disability, profound	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0011446	HP:0002300	Mutism	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0011446	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:0011446	HP:0002300	Mutism	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0011446	HP:0006887	Intellectual disability, progressive	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0011446	HP:0010864	Intellectual disability, severe	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0011446	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:0011446	HP:0010529	Echolalia	2	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.		58
HP:0011446	HP:0000750	Delayed speech and language development	2	SMAD6 CL E G H	4091	6772	OMIM:617439	Craniosynostosis 7	.		33
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011446	HP:0002300	Mutism	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0002381	Aphasia	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0002465	Poor speech	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011446	HP:0010529	Echolalia	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0011446	HP:0001260	Dysarthria	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0011446	HP:0002381	Aphasia	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0011446	HP:0002354	Memory impairment	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0011446	HP:0000750	Delayed speech and language development	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0011446	HP:0002354	Memory impairment	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0011446	HP:0001256	Intellectual disability, mild	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0011446	HP:0002300	Mutism	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0011446	HP:0002371	Loss of speech	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0011446	HP:0032588	Hand apraxia	2	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011446	HP:0001254	Lethargy	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0011446	HP:0002465	Poor speech	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0011446	HP:0007301	Oromotor apraxia	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3	.		91
HP:0011446	HP:0000750	Delayed speech and language development	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0011446	HP:0002354	Memory impairment	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0011446	HP:0010864	Intellectual disability, severe	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0011446	HP:0001260	Dysarthria	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0011446	HP:0002465	Poor speech	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0011446	HP:0010529	Echolalia	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0011446	HP:0001618	Dysphonia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body			65
HP:0011446	HP:0007159	Fluctuations in consciousness	2	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.		65
HP:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0011446	HP:0001260	Dysarthria	2	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0011446	HP:0001268	Mental deterioration	2	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0011446	HP:0001260	Dysarthria	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0011446	HP:0001268	Mental deterioration	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0011446	HP:0001268	Mental deterioration	2	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body			2
HP:0011446	HP:0007159	Fluctuations in consciousness	2	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.		2
HP:0011446	HP:0000750	Delayed speech and language development	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0000750	Delayed speech and language development	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011446	HP:0001260	Dysarthria	2	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0011446	HP:0001268	Mental deterioration	2	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0011446	HP:0001260	Dysarthria	2	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.		6
HP:0011446	HP:0001268	Mental deterioration	2	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.		6
HP:0011446	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0006887	Intellectual disability, progressive	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	HP:0010864	Intellectual disability, severe	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		37
HP:0011446	HP:0000750	Delayed speech and language development	2	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.		37
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0011446	HP:0010864	Intellectual disability, severe	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0011446	HP:0001260	Dysarthria	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0011446	HP:0001618	Dysphonia	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011446	HP:0000657	Oculomotor apraxia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0001268	Mental deterioration	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0001289	Confusion	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0002354	Memory impairment	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0002381	Aphasia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0010525	Finger agnosia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0010526	Dysgraphia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0001260	Dysarthria	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0011446	HP:0001260	Dysarthria	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0011446	HP:0001260	Dysarthria	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0011446	HP:0001259	Coma	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011446	HP:0000750	Delayed speech and language development	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0010864	Intellectual disability, severe	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0001256	Intellectual disability, mild	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0011446	HP:0000750	Delayed speech and language development	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	HP:0010864	Intellectual disability, severe	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0011446	HP:0010526	Dysgraphia	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0011446	HP:0011098	Speech apraxia	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0011446	HP:0001256	Intellectual disability, mild	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0011446	HP:0001260	Dysarthria	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0011446	HP:0001260	Dysarthria	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional		208
HP:0011446	HP:0001268	Mental deterioration	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0011446	HP:0002354	Memory impairment	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0011446	HP:0001260	Dysarthria	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0011446	HP:0001618	Dysphonia	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0000750	Delayed speech and language development	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0001260	Dysarthria	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0011446	HP:0001268	Mental deterioration	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent		287
HP:0011446	HP:0002354	Memory impairment	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0011446	HP:0002425	Anarthria	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0011446	HP:0001260	Dysarthria	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0011446	HP:0001268	Mental deterioration	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0011446	HP:0001268	Mental deterioration	2	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0011446	HP:0010526	Dysgraphia	2	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0011446	HP:0001260	Dysarthria	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0011446	HP:0001268	Mental deterioration	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0011446	HP:0001260	Dysarthria	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0011446	HP:0002371	Loss of speech	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent		171
HP:0011446	HP:0001260	Dysarthria	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0011446	HP:0002354	Memory impairment	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0011446	HP:0001260	Dysarthria	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional		171
HP:0011446	HP:0002354	Memory impairment	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare		171
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002329	Drowsiness	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0011446	HP:0000657	Oculomotor apraxia	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0011446	HP:0001260	Dysarthria	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0011446	HP:0000750	Delayed speech and language development	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011446	HP:0001260	Dysarthria	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001256	Intellectual disability, mild	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011446	HP:0001260	Dysarthria	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0011446	HP:0002187	Intellectual disability, profound	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0011446	HP:0010864	Intellectual disability, severe	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0011446	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:0011446	HP:0010529	Echolalia	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0011446	HP:0001260	Dysarthria	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0011446	HP:0000750	Delayed speech and language development	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.		126
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0002425	Anarthria	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0011446	HP:0001259	Coma	2	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011446	HP:0001268	Mental deterioration	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0002300	Mutism	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		62
HP:0011446	HP:0002354	Memory impairment	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0002371	Loss of speech	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0002381	Aphasia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0011446	HP:0002465	Poor speech	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0010526	Dysgraphia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0010529	Echolalia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0001260	Dysarthria	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0011446	HP:0001268	Mental deterioration	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0011446	HP:0002300	Mutism	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0011446	HP:0001260	Dysarthria	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0011446	HP:0001268	Mental deterioration	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0011446	HP:0002300	Mutism	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0011446	HP:0000657	Oculomotor apraxia	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0011446	HP:0001260	Dysarthria	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0011446	HP:0001268	Mental deterioration	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0011446	HP:0001260	Dysarthria	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0011446	HP:0011098	Speech apraxia	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040281 - Very frequent		138
HP:0011446	HP:0006887	Intellectual disability, progressive	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0011446	HP:0010864	Intellectual disability, severe	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0011446	HP:0001256	Intellectual disability, mild	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0011446	HP:0001618	Dysphonia	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0011446	HP:0007301	Oromotor apraxia	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0011446	HP:0006889	Intellectual disability, borderline	2	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		50
HP:0011446	HP:0001256	Intellectual disability, mild	2	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	.		50
HP:0011446	HP:0011098	Speech apraxia	2	SRPX2 CL E G H	27286	30668	OMIM:300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	.		50
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0011446	HP:0002546	Incomprehensible speech	2	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0011446	HP:0011098	Speech apraxia	2	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040281 - Very frequent		50
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.		41
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040284 - Very rare		14
HP:0011446	HP:0001260	Dysarthria	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional		14
HP:0011446	HP:0000750	Delayed speech and language development	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002465	Poor speech	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0007301	Oromotor apraxia	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002465	Poor speech	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0007301	Oromotor apraxia	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002342	Intellectual disability, moderate	2	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0001259	Coma	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0011446	HP:0001268	Mental deterioration	2	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0011446	HP:0001259	Coma	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		110
HP:0011446	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:0011446	HP:0001289	Confusion	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0011446	HP:0002354	Memory impairment	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0011446	HP:0007185	Loss of consciousness	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011446	HP:0001254	Lethargy	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002465	Poor speech	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011446	HP:0007301	Oromotor apraxia	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011446	HP:0001254	Lethargy	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011446	HP:0002465	Poor speech	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0007301	Oromotor apraxia	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0010864	Intellectual disability, severe	2	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011446	HP:0001254	Lethargy	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002465	Poor speech	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0011446	HP:0007301	Oromotor apraxia	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011446	HP:0001254	Lethargy	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002465	Poor speech	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011446	HP:0007301	Oromotor apraxia	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0000750	Delayed speech and language development	2	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0011446	HP:0000750	Delayed speech and language development	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0011446	HP:0000750	Delayed speech and language development	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0011446	HP:0002381	Aphasia	2	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis			19
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0011446	HP:0001260	Dysarthria	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040281 - Very frequent		14
HP:0011446	HP:0002354	Memory impairment	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0011446	HP:0011098	Speech apraxia	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0011446	HP:0001260	Dysarthria	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0011446	HP:0001268	Mental deterioration	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0011446	HP:0001260	Dysarthria	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0011446	HP:0001259	Coma	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		85
HP:0011446	HP:0001618	Dysphonia	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0011446	HP:0001260	Dysarthria	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0002187	Intellectual disability, profound	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0011446	HP:0010864	Intellectual disability, severe	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0011446	HP:0001259	Coma	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		70
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0011446	HP:0000657	Oculomotor apraxia	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0011446	HP:0001256	Intellectual disability, mild	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0011446	HP:0001260	Dysarthria	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0011446	HP:0001262	Excessive daytime somnolence	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0011446	HP:0002354	Memory impairment	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0011446	HP:0001254	Lethargy	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0011446	HP:0001268	Mental deterioration	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0011446	HP:0001268	Mental deterioration	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011446	HP:0000750	Delayed speech and language development	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	HP:0010864	Intellectual disability, severe	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0011446	HP:0007159	Fluctuations in consciousness	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0011446	HP:0001260	Dysarthria	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0011446	HP:0010864	Intellectual disability, severe	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	SYN1 CL E G H	6853	11494	OMIM:300115	Mental retardation, X-linked 50	.		58
HP:0011446	HP:0001268	Mental deterioration	2	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA			3
HP:0011446	HP:0001260	Dysarthria	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0011446	HP:0001260	Dysarthria	2	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0011446	HP:0002342	Intellectual disability, moderate	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0011446	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:0011446	HP:0002425	Anarthria	2	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		9
HP:0011446	HP:0001268	Mental deterioration	2	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0011446	HP:0002187	Intellectual disability, profound	2	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0011446	HP:0000658	Eyelid apraxia	2	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.		9
HP:0011446	HP:0001260	Dysarthria	2	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.		9
HP:0011446	HP:0001268	Mental deterioration	2	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	HP:0040283 - Occasional		9
HP:0011446	HP:0001268	Mental deterioration	2	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0011446	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:0011446	HP:0002465	Poor speech	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001260	Dysarthria	2	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0001260	Dysarthria	2	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.		4
HP:0011446	HP:0001260	Dysarthria	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0011446	HP:0001618	Dysphonia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0011446	HP:0010864	Intellectual disability, severe	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0011446	HP:0001260	Dysarthria	2	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8			23
HP:0011446	HP:0001260	Dysarthria	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0011446	HP:0000750	Delayed speech and language development	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0011446	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:0011446	HP:0002465	Poor speech	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0002465	Poor speech	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0011446	HP:0000750	Delayed speech and language development	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0011446	HP:0001268	Mental deterioration	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0011446	HP:0001260	Dysarthria	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0011446	HP:0001268	Mental deterioration	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0011446	HP:0002300	Mutism	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0011446	HP:0001260	Dysarthria	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011446	HP:0010864	Intellectual disability, severe	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0011446	HP:0000750	Delayed speech and language development	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0002187	Intellectual disability, profound	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0010864	Intellectual disability, severe	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	HP:0000750	Delayed speech and language development	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0011446	HP:0001260	Dysarthria	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0011446	HP:0010864	Intellectual disability, severe	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0011446	HP:0001260	Dysarthria	2	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.		271
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0011446	HP:0001260	Dysarthria	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent		271
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0011446	HP:0006889	Intellectual disability, borderline	2	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0011446	HP:0001260	Dysarthria	2	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.		271
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040283 - Occasional		271
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0011446	HP:0000750	Delayed speech and language development	2	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	HP:0002425	Anarthria	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional		52
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	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:0011446	HP:0002465	Poor speech	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011446	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:0011446	HP:0001254	Lethargy	2	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.		20
HP:0011446	HP:0001268	Mental deterioration	2	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.		20
HP:0011446	HP:0001289	Confusion	2	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.		20
HP:0011446	HP:0001260	Dysarthria	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0011446	HP:0001268	Mental deterioration	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0011446	HP:0002300	Mutism	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0011446	HP:0001260	Dysarthria	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0011446	HP:0001268	Mental deterioration	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0011446	HP:0002300	Mutism	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0011446	HP:0001259	Coma	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0011446	HP:0007185	Loss of consciousness	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0011446	HP:0000750	Delayed speech and language development	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0011446	HP:0000750	Delayed speech and language development	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0011446	HP:0001260	Dysarthria	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0011446	HP:0001268	Mental deterioration	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0011446	HP:0001260	Dysarthria	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0011446	HP:0001268	Mental deterioration	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0001289	Confusion	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0011446	HP:0002300	Mutism	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0011446	HP:0001268	Mental deterioration	2	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent		7
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0002381	Aphasia	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011446	HP:0000750	Delayed speech and language development	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011446	HP:0002300	Mutism	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011446	HP:0002381	Aphasia	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011446	HP:0006887	Intellectual disability, progressive	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0011446	HP:0010529	Echolalia	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011446	HP:0010864	Intellectual disability, severe	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0011446	HP:0001254	Lethargy	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0011446	HP:0002381	Aphasia	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011446	HP:0000657	Oculomotor apraxia	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0011446	HP:0000657	Oculomotor apraxia	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0011446	HP:0000750	Delayed speech and language development	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0011446	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002465	Poor speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0007301	Oromotor apraxia	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0002465	Poor speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0007301	Oromotor apraxia	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002465	Poor speech	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0007301	Oromotor apraxia	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011446	HP:0001254	Lethargy	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002465	Poor speech	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011446	HP:0007301	Oromotor apraxia	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0000750	Delayed speech and language development	2	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011446	HP:0001260	Dysarthria	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0011446	HP:0001260	Dysarthria	2	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.		52
HP:0011446	HP:0001260	Dysarthria	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0011446	HP:0001260	Dysarthria	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0011446	HP:0000750	Delayed speech and language development	2	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14	.		17
HP:0011446	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:0011446	HP:0002465	Poor speech	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0011446	HP:0000750	Delayed speech and language development	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0011446	HP:0000750	Delayed speech and language development	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0011446	HP:0002354	Memory impairment	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0011446	HP:0000750	Delayed speech and language development	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011446	HP:0001256	Intellectual disability, mild	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011446	HP:0001256	Intellectual disability, mild	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0011446	HP:0001260	Dysarthria	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011446	HP:0002354	Memory impairment	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011446	HP:0010526	Dysgraphia	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011446	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0002465	Poor speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0007301	Oromotor apraxia	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011446	HP:0001254	Lethargy	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002465	Poor speech	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011446	HP:0007301	Oromotor apraxia	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0000750	Delayed speech and language development	2	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011446	HP:0001260	Dysarthria	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.		58
HP:0011446	HP:0001618	Dysphonia	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0011446	HP:0001260	Dysarthria	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent		58
HP:0011446	HP:0001618	Dysphonia	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0011446	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:0011446	HP:0001254	Lethargy	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.		80
HP:0011446	HP:0001260	Dysarthria	2	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0011446	HP:0001618	Dysphonia	2	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0011446	HP:0001260	Dysarthria	2	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040282 - Frequent		42
HP:0011446	HP:0001618	Dysphonia	2	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type			42
HP:0011446	HP:0001256	Intellectual disability, mild	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0011446	HP:0001260	Dysarthria	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0011446	HP:0002329	Drowsiness	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011446	HP:0001268	Mental deterioration	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0002354	Memory impairment	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0002381	Aphasia	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0000750	Delayed speech and language development	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011446	HP:0001259	Coma	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0011446	HP:0007185	Loss of consciousness	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0011446	HP:0000750	Delayed speech and language development	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0011446	HP:0001256	Intellectual disability, mild	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0011446	HP:0001260	Dysarthria	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0011446	HP:0001268	Mental deterioration	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0011446	HP:0001268	Mental deterioration	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0011446	HP:0001254	Lethargy	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0011446	HP:0001268	Mental deterioration	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011446	HP:0000750	Delayed speech and language development	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011446	HP:0001268	Mental deterioration	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0011446	HP:0006887	Intellectual disability, progressive	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0011446	HP:0001260	Dysarthria	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0011446	HP:0001268	Mental deterioration	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0011446	HP:0001260	Dysarthria	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0011446	HP:0001256	Intellectual disability, mild	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0011446	HP:0000750	Delayed speech and language development	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0011446	HP:0001254	Lethargy	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.		3
HP:0011446	HP:0001268	Mental deterioration	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	HP:0040284 - Very rare		3
HP:0011446	HP:0001289	Confusion	2	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.		3
HP:0011446	HP:0001259	Coma	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0011446	HP:0007185	Loss of consciousness	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0011446	HP:0001289	Confusion	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0011446	HP:0002354	Memory impairment	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0011446	HP:0000750	Delayed speech and language development	2	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5			3
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0002300	Mutism	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0011446	HP:0002354	Memory impairment	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0002371	Loss of speech	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0002381	Aphasia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011446	HP:0002465	Poor speech	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0010526	Dysgraphia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0010529	Echolalia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0011446	HP:0001260	Dysarthria	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0011446	HP:0001268	Mental deterioration	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0002300	Mutism	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0011446	HP:0002354	Memory impairment	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0002381	Aphasia	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0010523	Alexia	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0011446	HP:0010526	Dysgraphia	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0011446	HP:0030391	Spoken word recognition deficit	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0001268	Mental deterioration	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0011446	HP:0002381	Aphasia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0011446	HP:0010523	Alexia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0011446	HP:0010526	Dysgraphia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0011446	HP:0030222	Visual agnosia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0011446	HP:0010864	Intellectual disability, severe	2	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0011446	HP:0001254	Lethargy	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0011446	HP:0001618	Dysphonia	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0011446	HP:0000750	Delayed speech and language development	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0011446	HP:0000750	Delayed speech and language development	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0011446	HP:0010864	Intellectual disability, severe	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0011446	HP:0010864	Intellectual disability, severe	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0011446	HP:0001260	Dysarthria	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0011446	HP:0001268	Mental deterioration	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0011446	HP:0002168	Scanning speech	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0011446	HP:0010526	Dysgraphia	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0011446	HP:0001260	Dysarthria	2	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0011446	HP:0010526	Dysgraphia	2	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0011446	HP:0001260	Dysarthria	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0001256	Intellectual disability, mild	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0011446	HP:0000657	Oculomotor apraxia	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0011446	HP:0002354	Memory impairment	2	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0011446	HP:0000750	Delayed speech and language development	2	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54	.		2
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		71
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0011446	HP:0000750	Delayed speech and language development	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011446	HP:0000657	Oculomotor apraxia	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000657	Oculomotor apraxia	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0000750	Delayed speech and language development	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0000657	Oculomotor apraxia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0001289	Confusion	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0011446	HP:0002354	Memory impairment	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0011446	HP:0002381	Aphasia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0010525	Finger agnosia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0006889	Intellectual disability, borderline	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0011446	HP:0006887	Intellectual disability, progressive	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0011446	HP:0001260	Dysarthria	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0011446	HP:0000750	Delayed speech and language development	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0010864	Intellectual disability, severe	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0001260	Dysarthria	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.		47
HP:0011446	HP:0001268	Mental deterioration	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011446	HP:0002354	Memory impairment	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011446	HP:0000750	Delayed speech and language development	2	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0011446	HP:0001618	Dysphonia	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0011446	HP:0002371	Loss of speech	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	HP:0040283 - Occasional		21
HP:0011446	HP:0001254	Lethargy	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0011446	HP:0000750	Delayed speech and language development	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0011446	HP:0000657	Oculomotor apraxia	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0011446	HP:0001260	Dysarthria	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0011446	HP:0002168	Scanning speech	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0011446	HP:0001260	Dysarthria	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0011446	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:0011446	HP:0001259	Coma	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0011446	HP:0007185	Loss of consciousness	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0011446	HP:0002354	Memory impairment	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0002465	Poor speech	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	HP:0010864	Intellectual disability, severe	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0011446	HP:0002465	Poor speech	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0011446	HP:0011098	Speech apraxia	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002300	Mutism	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		31
HP:0011446	HP:0002354	Memory impairment	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002371	Loss of speech	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002381	Aphasia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0011446	HP:0002465	Poor speech	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0010526	Dysgraphia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0010529	Echolalia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0000657	Oculomotor apraxia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0001289	Confusion	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0002354	Memory impairment	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0002381	Aphasia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0010525	Finger agnosia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0010526	Dysgraphia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0011446	HP:0000657	Oculomotor apraxia	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		31
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0011446	HP:0002354	Memory impairment	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0002354	Memory impairment	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0002381	Aphasia	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002300	Mutism	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		31
HP:0011446	HP:0002354	Memory impairment	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002381	Aphasia	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0010523	Alexia	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		31
HP:0011446	HP:0010526	Dysgraphia	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		31
HP:0011446	HP:0030391	Spoken word recognition deficit	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0001268	Mental deterioration	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0011446	HP:0002381	Aphasia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0010523	Alexia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0011446	HP:0010526	Dysgraphia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0011446	HP:0030222	Visual agnosia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002187	Intellectual disability, profound	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		56
HP:0011446	HP:0002371	Loss of speech	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0011446	HP:0000750	Delayed speech and language development	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0002187	Intellectual disability, profound	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0011446	HP:0001268	Mental deterioration	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0011446	HP:0002354	Memory impairment	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0011446	HP:0002381	Aphasia	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0011446	HP:0001260	Dysarthria	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0011446	HP:0001268	Mental deterioration	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0011446	HP:0002354	Memory impairment	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0011446	HP:0001254	Lethargy	2	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7			2
HP:0011446	HP:0001254	Lethargy	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0011446	HP:0001256	Intellectual disability, mild	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011446	HP:0001260	Dysarthria	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.		78
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011446	HP:0002465	Poor speech	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0011446	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:0011446	HP:0002465	Poor speech	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0011446	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:0011446	HP:0002465	Poor speech	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0011446	HP:0001268	Mental deterioration	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001260	Dysarthria	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0001289	Confusion	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0011446	HP:0001268	Mental deterioration	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001254	Lethargy	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0001268	Mental deterioration	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0011446	HP:0001268	Mental deterioration	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011446	HP:0002354	Memory impairment	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0007159	Fluctuations in consciousness	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0011446	HP:0025268	Stuttering	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011446	HP:0001268	Mental deterioration	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0011446	HP:0001268	Mental deterioration	2	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011446	HP:0002465	Poor speech	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011446	HP:0002465	Poor speech	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011446	HP:0000750	Delayed speech and language development	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0011446	HP:0006887	Intellectual disability, progressive	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0011446	HP:0010864	Intellectual disability, severe	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0011446	HP:0001254	Lethargy	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040283 - Occasional		9
HP:0011446	HP:0010864	Intellectual disability, severe	2	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040282 - Frequent		97
HP:0011446	HP:0000750	Delayed speech and language development	2	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0011446	HP:0001254	Lethargy	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0011446	HP:0010864	Intellectual disability, severe	2	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040282 - Frequent		97
HP:0011446	HP:0001256	Intellectual disability, mild	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0011446	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:0011446	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:0011446	HP:0001254	Lethargy	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0011446	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:0011446	HP:0001254	Lethargy	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent		1
HP:0011446	HP:0001260	Dysarthria	2	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.		57
HP:0011446	HP:0001260	Dysarthria	2	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0011446	HP:0000750	Delayed speech and language development	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0011446	HP:0001618	Dysphonia	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0011446	HP:0031358	Vegetative state	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011446	HP:0010864	Intellectual disability, severe	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0011446	HP:0001260	Dysarthria	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0011446	HP:0001618	Dysphonia	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0011446	HP:0001260	Dysarthria	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0011446	HP:0001268	Mental deterioration	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0011446	HP:0001260	Dysarthria	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0002354	Memory impairment	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0001260	Dysarthria	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0011446	HP:0001268	Mental deterioration	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0011446	HP:0010864	Intellectual disability, severe	2	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.		106
HP:0011446	HP:0000657	Oculomotor apraxia	2	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0011446	HP:0001268	Mental deterioration	2	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0011446	HP:0000750	Delayed speech and language development	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0011446	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:0011446	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:0011446	HP:0007301	Oromotor apraxia	2	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional		39
HP:0011446	HP:0000657	Oculomotor apraxia	2	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0011446	HP:0000657	Oculomotor apraxia	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0011446	HP:0002465	Poor speech	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0011446	HP:0001618	Dysphonia	2	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0011446	HP:0000750	Delayed speech and language development	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0011446	HP:0001260	Dysarthria	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0011446	HP:0002465	Poor speech	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0011446	HP:0001268	Mental deterioration	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0011446	HP:0001618	Dysphonia	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040281 - Very frequent		66
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0010864	Intellectual disability, severe	2	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7			76
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0011446	HP:0002342	Intellectual disability, moderate	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.		7
HP:0011446	HP:0000750	Delayed speech and language development	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011446	HP:0001254	Lethargy	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0011446	HP:0001260	Dysarthria	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0011446	HP:0001262	Excessive daytime somnolence	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0011446	HP:0001260	Dysarthria	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional		113
HP:0011446	HP:0001268	Mental deterioration	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0011446	HP:0001618	Dysphonia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0011446	HP:0001260	Dysarthria	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0011446	HP:0001268	Mental deterioration	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0011446	HP:0001260	Dysarthria	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0011446	HP:0002354	Memory impairment	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		113
HP:0011446	HP:0001259	Coma	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0011446	HP:0001268	Mental deterioration	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0011446	HP:0000657	Oculomotor apraxia	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		22
HP:0011446	HP:0001268	Mental deterioration	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0011446	HP:0002354	Memory impairment	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0011446	HP:0001268	Mental deterioration	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0011446	HP:0002354	Memory impairment	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011446	HP:0002425	Anarthria	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0011446	HP:0000750	Delayed speech and language development	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011446	HP:0000750	Delayed speech and language development	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0011446	HP:0010864	Intellectual disability, severe	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0011446	HP:0001260	Dysarthria	2	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.		13
HP:0011446	HP:0001289	Confusion	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0011446	HP:0002354	Memory impairment	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011446	HP:0001260	Dysarthria	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0011446	HP:0001268	Mental deterioration	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0011446	HP:0001260	Dysarthria	2	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula
HP:0011446	HP:0000750	Delayed speech and language development	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011446	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:0011446	HP:0002465	Poor speech	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0010529	Echolalia	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	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:0011446	HP:0002465	Poor speech	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent		7
HP:0011446	HP:0010529	Echolalia	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0006887	Intellectual disability, progressive	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	HP:0010864	Intellectual disability, severe	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		278
HP:0011446	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:0011446	HP:0002465	Poor speech	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0011446	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:0011446	HP:0002465	Poor speech	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:0011446	HP:0000750	Delayed speech and language development	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0010864	Intellectual disability, severe	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.		20
HP:0011446	HP:0001268	Mental deterioration	2	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	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:0011446	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:0011446	HP:0002381	Aphasia	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0011446	HP:0002187	Intellectual disability, profound	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0011446	HP:0001268	Mental deterioration	2	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0011446	HP:0001254	Lethargy	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0011446	HP:0001259	Coma	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0011446	HP:0002329	Drowsiness	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15
HP:0011446	HP:0007185	Loss of consciousness	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0011446	HP:0000657	Oculomotor apraxia	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002381	Aphasia	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011446	HP:0000750	Delayed speech and language development	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0011446	HP:0000750	Delayed speech and language development	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0000750	Delayed speech and language development	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	HP:0002187	Intellectual disability, profound	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	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:0011446	HP:0002354	Memory impairment	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0011446	HP:0001259	Coma	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		116
HP:0011446	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:0011446	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:0011446	HP:0002465	Poor speech	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0011446	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:0011446	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:0011446	HP:0001259	Coma	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0011446	HP:0001262	Excessive daytime somnolence	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0011446	HP:0007185	Loss of consciousness	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0011446	HP:0007185	Loss of consciousness	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0011446	HP:0001256	Intellectual disability, mild	2	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0011446	HP:0002465	Poor speech	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0011446	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:0011446	HP:0010864	Intellectual disability, severe	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0011446	HP:0002342	Intellectual disability, moderate	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0011446	HP:0001260	Dysarthria	2	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent		8
HP:0011446	HP:0001254	Lethargy	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011446	HP:0002354	Memory impairment	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0011446	HP:0011098	Speech apraxia	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.		2
HP:0011446	HP:0001268	Mental deterioration	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011446	HP:0002354	Memory impairment	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0011446	HP:0001260	Dysarthria	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0011446	HP:0002354	Memory impairment	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent		2
HP:0011446	HP:0001260	Dysarthria	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0011446	HP:0001618	Dysphonia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0011446	HP:0001260	Dysarthria	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0011446	HP:0002354	Memory impairment	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0011446	HP:0001260	Dysarthria	2	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8	.		116
HP:0011446	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:0011446	HP:0002187	Intellectual disability, profound	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0011446	HP:0001260	Dysarthria	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	.		63
HP:0011446	HP:0001260	Dysarthria	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0011446	HP:0002354	Memory impairment	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002300	Mutism	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		63
HP:0011446	HP:0002354	Memory impairment	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002371	Loss of speech	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002381	Aphasia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0011446	HP:0002465	Poor speech	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0010526	Dysgraphia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0010529	Echolalia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0001260	Dysarthria	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0011446	HP:0002300	Mutism	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0011446	HP:0002381	Aphasia	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0011446	HP:0002300	Mutism	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:0011446	HP:0002381	Aphasia	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:0011446	HP:0001268	Mental deterioration	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002300	Mutism	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		63
HP:0011446	HP:0002354	Memory impairment	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002381	Aphasia	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0006977	Grammar-specific speech disorder	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0010523	Alexia	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent		63
HP:0011446	HP:0010526	Dysgraphia	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		63
HP:0011446	HP:0030391	Spoken word recognition deficit	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0001618	Dysphonia	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0011446	HP:0001618	Dysphonia	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0011446	HP:0002465	Poor speech	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0011446	HP:0001260	Dysarthria	2	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0011446	HP:0001618	Dysphonia	2	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0011446	HP:0000750	Delayed speech and language development	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	HP:0002465	Poor speech	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	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:0011446	HP:0002465	Poor speech	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0011446	HP:0007301	Oromotor apraxia	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0011446	HP:0001260	Dysarthria	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0011446	HP:0001260	Dysarthria	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0011446	HP:0001268	Mental deterioration	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0011446	HP:0001268	Mental deterioration	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0011446	HP:0001618	Dysphonia	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0011446	HP:0031843	Bradyphrenia	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0011446	HP:0001268	Mental deterioration	2	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset			8
HP:0011446	HP:0001268	Mental deterioration	2	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0011446	HP:0001260	Dysarthria	2	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0011446	HP:0001256	Intellectual disability, mild	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011446	HP:0002342	Intellectual disability, moderate	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011446	HP:0001268	Mental deterioration	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001618	Dysphonia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011446	HP:0010526	Dysgraphia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0001260	Dysarthria	2	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0011446	HP:0000750	Delayed speech and language development	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0001260	Dysarthria	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0000750	Delayed speech and language development	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0010864	Intellectual disability, severe	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	HP:0002187	Intellectual disability, profound	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E	.		26
HP:0011446	HP:0001256	Intellectual disability, mild	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0011446	HP:0001260	Dysarthria	2	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0011446	HP:0000750	Delayed speech and language development	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	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:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011446	HP:0002187	Intellectual disability, profound	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0011446	HP:0001256	Intellectual disability, mild	2	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.		6
HP:0011446	HP:0002342	Intellectual disability, moderate	2	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.		6
HP:0011446	HP:0001260	Dysarthria	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0011446	HP:0000750	Delayed speech and language development	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0000750	Delayed speech and language development	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0011446	HP:0002465	Poor speech	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0011446	HP:0002465	Poor speech	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0011446	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:0011446	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:0011446	HP:0001260	Dysarthria	2	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040282 - Frequent		14
HP:0011446	HP:0000750	Delayed speech and language development	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0011446	HP:0002465	Poor speech	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0011446	HP:0006887	Intellectual disability, progressive	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0011446	HP:0010864	Intellectual disability, severe	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0011446	HP:0001260	Dysarthria	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		389
HP:0011446	HP:0001268	Mental deterioration	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0011446	HP:0001260	Dysarthria	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0011446	HP:0001268	Mental deterioration	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0011446	HP:0002465	Poor speech	2	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies	.
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011446	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:0011446	HP:0001260	Dysarthria	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:0011446	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:0011446	HP:0001268	Mental deterioration	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0011446	HP:0001260	Dysarthria	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0011446	HP:0001260	Dysarthria	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0011446	HP:0006887	Intellectual disability, progressive	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0011446	HP:0001268	Mental deterioration	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0011446	HP:0006887	Intellectual disability, progressive	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0011446	HP:0001260	Dysarthria	2	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0011446	HP:0001268	Mental deterioration	2	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6			4
HP:0011446	HP:0002354	Memory impairment	2	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0011446	HP:0031814	Palilalia	2	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0011446	HP:0000657	Oculomotor apraxia	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0011446	HP:0001260	Dysarthria	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0011446	HP:0000750	Delayed speech and language development	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0011446	HP:0002342	Intellectual disability, moderate	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011446	HP:0000750	Delayed speech and language development	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0011446	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:0011446	HP:0001268	Mental deterioration	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011446	HP:0000750	Delayed speech and language development	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0002342	Intellectual disability, moderate	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0011446	HP:0010864	Intellectual disability, severe	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0001254	Lethargy	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0011446	HP:0001259	Coma	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0011446	HP:0002354	Memory impairment	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0011446	HP:0007159	Fluctuations in consciousness	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0011446	HP:0006889	Intellectual disability, borderline	2	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent		5
HP:0011446	HP:0000750	Delayed speech and language development	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0001260	Dysarthria	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0011446	HP:0002342	Intellectual disability, moderate	2	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0011446	HP:0000750	Delayed speech and language development	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011446	HP:0010864	Intellectual disability, severe	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011446	HP:0000750	Delayed speech and language development	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0011446	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:0011446	HP:0000657	Oculomotor apraxia	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	HP:0040283 - Occasional		19
HP:0011446	HP:0000750	Delayed speech and language development	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011446	HP:0001256	Intellectual disability, mild	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011446	HP:0000657	Oculomotor apraxia	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0000750	Delayed speech and language development	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	HP:0010864	Intellectual disability, severe	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare		362
HP:0011446	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:0011446	HP:0001260	Dysarthria	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0011446	HP:0001268	Mental deterioration	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0011446	HP:0001618	Dysphonia	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0011446	HP:0001260	Dysarthria	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0011446	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011446	HP:0001254	Lethargy	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002465	Poor speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011446	HP:0007301	Oromotor apraxia	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011446	HP:0001254	Lethargy	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011446	HP:0002465	Poor speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0007301	Oromotor apraxia	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011446	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011446	HP:0001254	Lethargy	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002465	Poor speech	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0011446	HP:0007301	Oromotor apraxia	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011446	HP:0001254	Lethargy	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002465	Poor speech	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011446	HP:0007301	Oromotor apraxia	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0000750	Delayed speech and language development	2	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000750	Delayed speech and language development	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0011446	HP:0001256	Intellectual disability, mild	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0011446	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:0011446	HP:0002465	Poor speech	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0011446	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:0011446	HP:0001262	Excessive daytime somnolence	2	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		3
HP:0011446	HP:0002354	Memory impairment	2	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1			3
HP:0011446	HP:0001262	Excessive daytime somnolence	2	ZNF365 CL E G H	22891	18194	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent		3
HP:0011446	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:0011446	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:0011446	HP:0001256	Intellectual disability, mild	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0011446	HP:0000750	Delayed speech and language development	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0001256	Intellectual disability, mild	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011446	HP:0001260	Dysarthria	2	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0002342	Intellectual disability, moderate	2	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97			34
HP:0011446	HP:0002187	Intellectual disability, profound	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0011446	HP:0002329	Drowsiness	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0010864	Intellectual disability, severe	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0033688	Long term memory impairment	3	CL E G H
HP:0011446	HP:0033848	Receptive aphasia	3	CL E G H
HP:0011446	HP:0033849	Bilingual aphasia	3	CL E G H
HP:0011446	HP:0000726	Dementia	3	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0011446	HP:0000726	Dementia	3	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0011446	HP:0000726	Dementia	3	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0001325	Hypoglycemic coma	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0011446	HP:0001325	Hypoglycemic coma	3	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0011446	HP:0000726	Dementia	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0011446	HP:0001344	Absent speech	3	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0011446	HP:0001344	Absent speech	3	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0011446	HP:0001344	Absent speech	3	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011446	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:0011446	HP:0000726	Dementia	3	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0011446	HP:0001344	Absent speech	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0011446	HP:0000726	Dementia	3	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0011446	HP:0001344	Absent speech	3	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0011446	HP:0002464	Spastic dysarthria	3	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0011446	HP:0010863	Receptive language delay	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011446	HP:0001344	Absent speech	3	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0011446	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:0011446	HP:0001344	Absent speech	3	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0011446	HP:0010534	Transient global amnesia	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0011446	HP:0001325	Hypoglycemic coma	3	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0011446	HP:0031258	Delirium	3	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0011446	HP:0000726	Dementia	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0011446	HP:0002464	Spastic dysarthria	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0011446	HP:0000726	Dementia	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0011446	HP:0002464	Spastic dysarthria	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0011446	HP:0001344	Absent speech	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional		89
HP:0011446	HP:0001344	Absent speech	3	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0011446	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:0011446	HP:0010863	Receptive language delay	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0011446	HP:0002464	Spastic dysarthria	3	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0011446	HP:0002464	Spastic dysarthria	3	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		114
HP:0011446	HP:0002464	Spastic dysarthria	3	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0011446	HP:0001344	Absent speech	3	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0011446	HP:0002464	Spastic dysarthria	3	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0011446	HP:0002464	Spastic dysarthria	3	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0011446	HP:0002464	Spastic dysarthria	3	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0011446	HP:0002464	Spastic dysarthria	3	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0011446	HP:0000726	Dementia	3	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.		39
HP:0011446	HP:0000726	Dementia	3	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0011446	HP:0000726	Dementia	3	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0011446	HP:0007086	Social and occupational deterioration	3	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0011446	HP:0007086	Social and occupational deterioration	3	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.		74
HP:0011446	HP:0000726	Dementia	3	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0011446	HP:0000726	Dementia	3	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0011446	HP:0001344	Absent speech	3	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0011446	HP:0001344	Absent speech	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0011446	HP:0001344	Absent speech	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0011446	HP:0002474	Expressive language delay	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011446	HP:0001344	Absent speech	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0011446	HP:0001344	Absent speech	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0011446	HP:0000726	Dementia	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0011446	HP:0000726	Dementia	3	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0011446	HP:0001344	Absent speech	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0011446	HP:0001344	Absent speech	3	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0011446	HP:0002474	Expressive language delay	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011446	HP:0001344	Absent speech	3	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0011446	HP:0001344	Absent speech	3	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011446	HP:0001344	Absent speech	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011446	HP:0001344	Absent speech	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0011446	HP:0000726	Dementia	3	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0011446	HP:0000726	Dementia	3	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:0011446	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:0011446	HP:0000726	Dementia	3	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare		100
HP:0011446	HP:0000726	Dementia	3	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0011446	HP:0000726	Dementia	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0011446	HP:0000726	Dementia	3	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0011446	HP:0001344	Absent speech	3	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0011446	HP:0002464	Spastic dysarthria	3	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent		19
HP:0011446	HP:0012049	Laryngeal dystonia	3	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0011446	HP:0000726	Dementia	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0011446	HP:0000726	Dementia	3	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0011446	HP:0000726	Dementia	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011446	HP:0002361	Psychomotor deterioration	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011446	HP:0000726	Dementia	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011446	HP:0002361	Psychomotor deterioration	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011446	HP:0001344	Absent speech	3	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0011446	HP:0000726	Dementia	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011446	HP:0002361	Psychomotor deterioration	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011446	HP:0000726	Dementia	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0011446	HP:0000726	Dementia	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011446	HP:0000726	Dementia	3	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0011446	HP:0000726	Dementia	3	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0011446	HP:0000726	Dementia	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0011446	HP:0000726	Dementia	3	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0011446	HP:0000726	Dementia	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0011446	HP:0002464	Spastic dysarthria	3	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0011446	HP:0000726	Dementia	3	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0002464	Spastic dysarthria	3	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0011446	HP:0000726	Dementia	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional		25
HP:0011446	HP:0010534	Transient global amnesia	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0011446	HP:0001344	Absent speech	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0011446	HP:0001344	Absent speech	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0011446	HP:0001344	Absent speech	3	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0011446	HP:0001344	Absent speech	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0011446	HP:0000726	Dementia	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0011446	HP:0000726	Dementia	3	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0011446	HP:0001344	Absent speech	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0011446	HP:0000726	Dementia	3	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0011446	HP:0000726	Dementia	3	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0011446	HP:0000726	Dementia	3	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0011446	HP:0000726	Dementia	3	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0011446	HP:0002427	Expressive aphasia	3	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		56
HP:0011446	HP:0000726	Dementia	3	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0011446	HP:0030784	Anomic aphasia	3	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0011446	HP:0001344	Absent speech	3	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0011446	HP:0001344	Absent speech	3	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0011446	HP:0001344	Absent speech	3	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0011446	HP:0001344	Absent speech	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0011446	HP:0001344	Absent speech	3	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0011446	HP:0001344	Absent speech	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0011446	HP:0001344	Absent speech	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011446	HP:0001344	Absent speech	3	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0011446	HP:0001344	Absent speech	3	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0011446	HP:0000726	Dementia	3	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	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:0011446	HP:0001344	Absent speech	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011446	HP:0000726	Dementia	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011446	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		200
HP:0011446	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0001344	Absent speech	3	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0002474	Expressive language delay	3	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		200
HP:0011446	HP:0001344	Absent speech	3	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0011446	HP:0000726	Dementia	3	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0011446	HP:0000726	Dementia	3	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0011446	HP:0001344	Absent speech	3	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0011446	HP:0000726	Dementia	3	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0011446	HP:0000726	Dementia	3	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0011446	HP:0007086	Social and occupational deterioration	3	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.		1
HP:0011446	HP:0001344	Absent speech	3	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011446	HP:0001344	Absent speech	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0011446	HP:0000726	Dementia	3	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0011446	HP:0000726	Dementia	3	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0011446	HP:0000726	Dementia	3	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0011446	HP:0002427	Expressive aphasia	3	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		42
HP:0011446	HP:0000726	Dementia	3	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0011446	HP:0030784	Anomic aphasia	3	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0000726	Dementia	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0011446	HP:0001344	Absent speech	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011446	HP:0001344	Absent speech	3	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0011446	HP:0001344	Absent speech	3	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0011446	HP:0001344	Absent speech	3	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0011446	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:0011446	HP:0000726	Dementia	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0011446	HP:0002361	Psychomotor deterioration	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0011446	HP:0000726	Dementia	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0011446	HP:0002333	Motor deterioration	3	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0011446	HP:0000726	Dementia	3	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.		143
HP:0011446	HP:0002333	Motor deterioration	3	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.		143
HP:0011446	HP:0000726	Dementia	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0011446	HP:0002333	Motor deterioration	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0011446	HP:0001344	Absent speech	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0011446	HP:0001344	Absent speech	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0011446	HP:0001344	Absent speech	3	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011446	HP:0001344	Absent speech	3	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG			18
HP:0011446	HP:0001344	Absent speech	3	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0011446	HP:0001344	Absent speech	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0010863	Receptive language delay	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0001344	Absent speech	3	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0011446	HP:0002361	Psychomotor deterioration	3	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0011446	HP:0001344	Absent speech	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0011446	HP:0001344	Absent speech	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.		67
HP:0011446	HP:0001344	Absent speech	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0011446	HP:0000726	Dementia	3	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0011446	HP:0012049	Laryngeal dystonia	3	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.		702
HP:0011446	HP:0012049	Laryngeal dystonia	3	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040281 - Very frequent		702
HP:0011446	HP:0007086	Social and occupational deterioration	3	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.		6
HP:0011446	HP:0001344	Absent speech	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011446	HP:0000726	Dementia	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0011446	HP:0001344	Absent speech	3	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0011446	HP:0001344	Absent speech	3	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0011446	HP:0000726	Dementia	3	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0011446	HP:0001344	Absent speech	3	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011446	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:0011446	HP:0000726	Dementia	3	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.		3
HP:0011446	HP:0000726	Dementia	3	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0011446	HP:0000726	Dementia	3	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		51
HP:0011446	HP:0001344	Absent speech	3	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0011446	HP:0000726	Dementia	3	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0011446	HP:0010534	Transient global amnesia	3	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	HP:0000726	Dementia	3	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.		273
HP:0011446	HP:0001344	Absent speech	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0011446	HP:0001344	Absent speech	3	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0011446	HP:0000726	Dementia	3	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0000726	Dementia	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0011446	HP:0000726	Dementia	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011446	HP:0007086	Social and occupational deterioration	3	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0011446	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:0011446	HP:0001344	Absent speech	3	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0011446	HP:0000726	Dementia	3	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040283 - Occasional		86
HP:0011446	HP:0000726	Dementia	3	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0011446	HP:0001344	Absent speech	3	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0011446	HP:0001344	Absent speech	3	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional		33
HP:0011446	HP:0001344	Absent speech	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011446	HP:0001344	Absent speech	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0011446	HP:0002427	Expressive aphasia	3	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		172
HP:0011446	HP:0000726	Dementia	3	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0011446	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		22
HP:0011446	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0001344	Absent speech	3	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0002474	Expressive language delay	3	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		22
HP:0011446	HP:0000726	Dementia	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0011446	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		3
HP:0011446	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0001344	Absent speech	3	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0002474	Expressive language delay	3	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		3
HP:0011446	HP:0000726	Dementia	3	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0011446	HP:0000726	Dementia	3	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.		155
HP:0011446	HP:0000726	Dementia	3	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0011446	HP:0001344	Absent speech	3	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.		72
HP:0011446	HP:0000726	Dementia	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0011446	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:0011446	HP:0000726	Dementia	3	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0011446	HP:0000726	Dementia	3	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	HP:0003581 - Adult onset	145
HP:0011446	HP:0031258	Delirium	3	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0011446	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:0011446	HP:0001344	Absent speech	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011446	HP:0001344	Absent speech	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0011446	HP:0001344	Absent speech	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0011446	HP:0001344	Absent speech	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001344	Absent speech	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011446	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:0011446	HP:0001344	Absent speech	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011446	HP:0002474	Expressive language delay	3	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011446	HP:0001344	Absent speech	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0011446	HP:0007086	Social and occupational deterioration	3	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.		21
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0011446	HP:0001344	Absent speech	3	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0011446	HP:0001344	Absent speech	3	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0011446	HP:0002474	Expressive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0011446	HP:0010863	Receptive language delay	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0011446	HP:0001344	Absent speech	3	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0011446	HP:0001344	Absent speech	3	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0011446	HP:0000726	Dementia	3	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0011446	HP:0001344	Absent speech	3	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.		6
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0011446	HP:0000726	Dementia	3	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0011446	HP:0000726	Dementia	3	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0011446	HP:0000726	Dementia	3	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0011446	HP:0000726	Dementia	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0011446	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:0011446	HP:0002464	Spastic dysarthria	3	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040282 - Frequent		18
HP:0011446	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:0011446	HP:0001344	Absent speech	3	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0011446	HP:0001325	Hypoglycemic coma	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0011446	HP:0001325	Hypoglycemic coma	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0011446	HP:0001325	Hypoglycemic coma	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0011446	HP:0001344	Absent speech	3	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0011446	HP:0001344	Absent speech	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011446	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:0011446	HP:0002427	Expressive aphasia	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0011446	HP:0000726	Dementia	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0011446	HP:0002464	Spastic dysarthria	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0011446	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:0011446	HP:0000726	Dementia	3	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		36
HP:0011446	HP:0001344	Absent speech	3	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0011446	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		17
HP:0011446	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0001344	Absent speech	3	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0002474	Expressive language delay	3	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		17
HP:0011446	HP:0001344	Absent speech	3	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		172
HP:0011446	HP:0001344	Absent speech	3	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0011446	HP:0031258	Delirium	3	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0011446	HP:0031258	Delirium	3	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.		111
HP:0011446	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:0011446	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:0011446	HP:0002474	Expressive language delay	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0010863	Receptive language delay	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011446	HP:0000726	Dementia	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0011446	HP:0000726	Dementia	3	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0011446	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:0011446	HP:0001344	Absent speech	3	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011446	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		48
HP:0011446	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0001344	Absent speech	3	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	HP:0002474	Expressive language delay	3	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		48
HP:0011446	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:0011446	HP:0002474	Expressive language delay	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0010863	Receptive language delay	3	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0011446	HP:0001344	Absent speech	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0011446	HP:0002333	Motor deterioration	3	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0011446	HP:0001344	Absent speech	3	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0011446	HP:0000726	Dementia	3	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0012049	Laryngeal dystonia	3	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0000726	Dementia	3	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0011446	HP:0000726	Dementia	3	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0011446	HP:0001344	Absent speech	3	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0011446	HP:0001344	Absent speech	3	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0011446	HP:0001344	Absent speech	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0011446	HP:0001344	Absent speech	3	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0011446	HP:0002361	Psychomotor deterioration	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		160
HP:0011446	HP:0002333	Motor deterioration	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0011446	HP:0002361	Psychomotor deterioration	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0011446	HP:0001344	Absent speech	3	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0011446	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		2
HP:0011446	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0001344	Absent speech	3	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0002474	Expressive language delay	3	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		2
HP:0011446	HP:0000726	Dementia	3	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0011446	HP:0000726	Dementia	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0011446	HP:0000726	Dementia	3	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0011446	HP:0000726	Dementia	3	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare
HP:0011446	HP:0000726	Dementia	3	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0002464	Spastic dysarthria	3	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0011446	HP:0000726	Dementia	3	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0011446	HP:0002464	Spastic dysarthria	3	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0011446	HP:0000726	Dementia	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0011446	HP:0000726	Dementia	3	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040283 - Occasional		86
HP:0011446	HP:0000726	Dementia	3	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0011446	HP:0001325	Hypoglycemic coma	3	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.		237
HP:0011446	HP:0001344	Absent speech	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0011446	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:0011446	HP:0000726	Dementia	3	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0011446	HP:0008376	Nasal, dysarthic speech	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0011446	HP:0002427	Expressive aphasia	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.		107
HP:0011446	HP:0002464	Spastic dysarthria	3	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0011446	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		173
HP:0011446	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0001344	Absent speech	3	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002474	Expressive language delay	3	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		173
HP:0011446	HP:0002464	Spastic dysarthria	3	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0011446	HP:0001325	Hypoglycemic coma	3	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.		56
HP:0011446	HP:0000726	Dementia	3	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0011446	HP:0000726	Dementia	3	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0011446	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:0011446	HP:0001344	Absent speech	3	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011446	HP:0012049	Laryngeal dystonia	3	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type	HP:0040282 - Frequent		13
HP:0011446	HP:0012049	Laryngeal dystonia	3	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.		13
HP:0011446	HP:0001344	Absent speech	3	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.		36
HP:0011446	HP:0001344	Absent speech	3	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0011446	HP:0012049	Laryngeal dystonia	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0011446	HP:0012049	Laryngeal dystonia	3	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0011446	HP:0012049	Laryngeal dystonia	3	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0011446	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:0011446	HP:0002474	Expressive language delay	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	HP:0010863	Receptive language delay	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	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:0011446	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:0011446	HP:0002474	Expressive language delay	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0011446	HP:0002474	Expressive language delay	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0011446	HP:0001344	Absent speech	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0011446	HP:0001344	Absent speech	3	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011446	HP:0001344	Absent speech	3	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0011446	HP:0008376	Nasal, dysarthic speech	3	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula	HP:0040282 - Frequent		12
HP:0011446	HP:0010863	Receptive language delay	3	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0011446	HP:0001344	Absent speech	3	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011446	HP:0001344	Absent speech	3	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0002333	Motor deterioration	3	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0011446	HP:0007086	Social and occupational deterioration	3	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent		434
HP:0011446	HP:0001344	Absent speech	3	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.		274
HP:0011446	HP:0001344	Absent speech	3	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0011446	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:0011446	HP:0001344	Absent speech	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0011446	HP:0000726	Dementia	3	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0011446	HP:0000726	Dementia	3	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0011446	HP:0000726	Dementia	3	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0011446	HP:0002427	Expressive aphasia	3	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		126
HP:0011446	HP:0000726	Dementia	3	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0011446	HP:0030784	Anomic aphasia	3	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0033687	Short term memory impairment	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011446	HP:0001344	Absent speech	3	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011446	HP:0001344	Absent speech	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0011446	HP:0001325	Hypoglycemic coma	3	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.		41
HP:0011446	HP:0001344	Absent speech	3	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0011446	HP:0002330	Paroxysmal drowsiness	3	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.		1
HP:0011446	HP:0010534	Transient global amnesia	3	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0011446	HP:0001344	Absent speech	3	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0011446	HP:0001344	Absent speech	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0011446	HP:0002474	Expressive language delay	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0011446	HP:0000726	Dementia	3	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.		38
HP:0011446	HP:0002333	Motor deterioration	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent		32
HP:0011446	HP:0001344	Absent speech	3	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011446	HP:0001344	Absent speech	3	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0011446	HP:0001344	Absent speech	3	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0011446	HP:0000726	Dementia	3	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0011446	HP:0010534	Transient global amnesia	3	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0011446	HP:0010534	Transient global amnesia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		2
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0011446	HP:0001325	Hypoglycemic coma	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0011446	HP:0001325	Hypoglycemic coma	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0011446	HP:0000726	Dementia	3	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0011446	HP:0000726	Dementia	3	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0011446	HP:0000726	Dementia	3	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0011446	HP:0001344	Absent speech	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011446	HP:0001344	Absent speech	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011446	HP:0001344	Absent speech	3	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0011446	HP:0001344	Absent speech	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0011446	HP:0001344	Absent speech	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0011446	HP:0007086	Social and occupational deterioration	3	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.		4
HP:0011446	HP:0000726	Dementia	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0011446	HP:0000726	Dementia	3	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.		34
HP:0011446	HP:0000726	Dementia	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0011446	HP:0000726	Dementia	3	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0011446	HP:0000726	Dementia	3	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.		12
HP:0011446	HP:0000726	Dementia	3	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0011446	HP:0001344	Absent speech	3	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0011446	HP:0001344	Absent speech	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0011446	HP:0001344	Absent speech	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0011446	HP:0001344	Absent speech	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0011446	HP:0001325	Hypoglycemic coma	3	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.		229
HP:0011446	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:0011446	HP:0001344	Absent speech	3	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0011446	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:0011446	HP:0000726	Dementia	3	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0011446	HP:0001344	Absent speech	3	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0011446	HP:0000726	Dementia	3	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0011446	HP:0000726	Dementia	3	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.		3
HP:0011446	HP:0000726	Dementia	3	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0011446	HP:0000726	Dementia	3	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0011446	HP:0001344	Absent speech	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0011446	HP:0001344	Absent speech	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0011446	HP:0001344	Absent speech	3	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0011446	HP:0001344	Absent speech	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0011446	HP:0001344	Absent speech	3	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0011446	HP:0001344	Absent speech	3	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011446	HP:0001344	Absent speech	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0011446	HP:0001344	Absent speech	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040283 - Occasional		121
HP:0011446	HP:0001325	Hypoglycemic coma	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0011446	HP:0001344	Absent speech	3	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	.		5
HP:0011446	HP:0012049	Laryngeal dystonia	3	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0011446	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:0011446	HP:0000726	Dementia	3	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0011446	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:0011446	HP:0001344	Absent speech	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0011446	HP:0001344	Absent speech	3	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0011446	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:0011446	HP:0001344	Absent speech	3	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103			3
HP:0011446	HP:0002361	Psychomotor deterioration	3	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011446	HP:0012049	Laryngeal dystonia	3	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0011446	HP:0002474	Expressive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0011446	HP:0010863	Receptive language delay	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0011446	HP:0001344	Absent speech	3	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011446	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:0011446	HP:0001344	Absent speech	3	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0011446	HP:0000726	Dementia	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		1
HP:0011446	HP:0001344	Absent speech	3	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0011446	HP:0001344	Absent speech	3	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0011446	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:0011446	HP:0001344	Absent speech	3	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0011446	HP:0000726	Dementia	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0011446	HP:0001344	Absent speech	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0011446	HP:0000726	Dementia	3	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0011446	HP:0000726	Dementia	3	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.		221
HP:0011446	HP:0000726	Dementia	3	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0011446	HP:0001344	Absent speech	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0011446	HP:0001344	Absent speech	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0011446	HP:0002464	Spastic dysarthria	3	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0011446	HP:0001344	Absent speech	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0011446	HP:0007086	Social and occupational deterioration	3	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0011446	HP:0002427	Expressive aphasia	3	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		140
HP:0011446	HP:0033687	Short term memory impairment	3	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0011446	HP:0030784	Anomic aphasia	3	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional		140
HP:0011446	HP:0002464	Spastic dysarthria	3	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0011446	HP:0030784	Anomic aphasia	3	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0011446	HP:0000726	Dementia	3	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0011446	HP:0002464	Spastic dysarthria	3	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0011446	HP:0000726	Dementia	3	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	HP:0040283 - Occasional		80
HP:0011446	HP:0000726	Dementia	3	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040284 - Very rare		80
HP:0011446	HP:0001344	Absent speech	3	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0011446	HP:0000726	Dementia	3	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011446	HP:0001325	Hypoglycemic coma	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0011446	HP:0001344	Absent speech	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0011446	HP:0001344	Absent speech	3	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0011446	HP:0001344	Absent speech	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0011446	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011446	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0011446	HP:0001344	Absent speech	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0011446	HP:0002333	Motor deterioration	3	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0011446	HP:0001344	Absent speech	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011446	HP:0002474	Expressive language delay	3	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011446	HP:0001344	Absent speech	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0011446	HP:0001344	Absent speech	3	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011446	HP:0010534	Transient global amnesia	3	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0011446	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:0011446	HP:0001344	Absent speech	3	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0011446	HP:0001344	Absent speech	3	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0011446	HP:0001344	Absent speech	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0011446	HP:0000726	Dementia	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0011446	HP:0031258	Delirium	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0011446	HP:0000726	Dementia	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011446	HP:0031258	Delirium	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011446	HP:0001344	Absent speech	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0010534	Transient global amnesia	3	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		1
HP:0011446	HP:0001344	Absent speech	3	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0011446	HP:0000726	Dementia	3	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.		11
HP:0011446	HP:0001325	Hypoglycemic coma	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0011446	HP:0001344	Absent speech	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0011446	HP:0001344	Absent speech	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0011446	HP:0001344	Absent speech	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011446	HP:0007086	Social and occupational deterioration	3	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.		183
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0011446	HP:0031258	Delirium	3	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0011446	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:0011446	HP:0001344	Absent speech	3	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0011446	HP:0001344	Absent speech	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0011446	HP:0000726	Dementia	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0011446	HP:0001344	Absent speech	3	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0011446	HP:0001344	Absent speech	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011446	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:0011446	HP:0010534	Transient global amnesia	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0011446	HP:0001344	Absent speech	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0011446	HP:0001325	Hypoglycemic coma	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent		11
HP:0011446	HP:0001344	Absent speech	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0011446	HP:0000726	Dementia	3	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0011446	HP:0000726	Dementia	3	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0011446	HP:0001325	Hypoglycemic coma	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0011446	HP:0001325	Hypoglycemic coma	3	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional		13
HP:0011446	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		45
HP:0011446	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0001344	Absent speech	3	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0002474	Expressive language delay	3	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		45
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011446	HP:0000726	Dementia	3	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.		8
HP:0011446	HP:0000726	Dementia	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0011446	HP:0000726	Dementia	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0011446	HP:0008376	Nasal, dysarthic speech	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0011446	HP:0000726	Dementia	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0002333	Motor deterioration	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0011446	HP:0000726	Dementia	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0011446	HP:0000726	Dementia	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0011446	HP:0002427	Expressive aphasia	3	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		4
HP:0011446	HP:0002427	Expressive aphasia	3	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional		7
HP:0011446	HP:0001344	Absent speech	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0011446	HP:0000726	Dementia	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011446	HP:0000726	Dementia	3	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0011446	HP:0001344	Absent speech	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0002474	Expressive language delay	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011446	HP:0001344	Absent speech	3	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011446	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:0011446	HP:0001344	Absent speech	3	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011446	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:0011446	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:0011446	HP:0000726	Dementia	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0011446	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:0011446	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:0011446	HP:0010534	Transient global amnesia	3	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		2
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0011446	HP:0002333	Motor deterioration	3	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional		641
HP:0011446	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:0011446	HP:0000726	Dementia	3	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0011446	HP:0000726	Dementia	3	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011446	HP:0000726	Dementia	3	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0011446	HP:0001344	Absent speech	3	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011446	HP:0000726	Dementia	3	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0011446	HP:0010534	Transient global amnesia	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0011446	HP:0000726	Dementia	3	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional		28
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0011446	HP:0001344	Absent speech	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0002464	Spastic dysarthria	3	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0011446	HP:0001344	Absent speech	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011446	HP:0001344	Absent speech	3	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0011446	HP:0001344	Absent speech	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0011446	HP:0001344	Absent speech	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011446	HP:0001344	Absent speech	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53	.		7
HP:0011446	HP:0001344	Absent speech	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0011446	HP:0001344	Absent speech	3	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0011446	HP:0001344	Absent speech	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011446	HP:0001344	Absent speech	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0011446	HP:0001344	Absent speech	3	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0011446	HP:0010534	Transient global amnesia	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0011446	HP:0000726	Dementia	3	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.		55
HP:0011446	HP:0000726	Dementia	3	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0011446	HP:0000726	Dementia	3	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0011446	HP:0002361	Psychomotor deterioration	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040281 - Very frequent		133
HP:0011446	HP:0000726	Dementia	3	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0011446	HP:0000726	Dementia	3	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.		50
HP:0011446	HP:0001344	Absent speech	3	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0011446	HP:0002333	Motor deterioration	3	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040282 - Frequent		4
HP:0011446	HP:0002361	Psychomotor deterioration	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0011446	HP:0030784	Anomic aphasia	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011446	HP:0001344	Absent speech	3	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0011446	HP:0001344	Absent speech	3	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0011446	HP:0000726	Dementia	3	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		103
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011446	HP:0002464	Spastic dysarthria	3	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0011446	HP:0000726	Dementia	3	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0011446	HP:0001344	Absent speech	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0011446	HP:0002474	Expressive language delay	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0011446	HP:0000726	Dementia	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0011446	HP:0000726	Dementia	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		464
HP:0011446	HP:0000726	Dementia	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0011446	HP:0002464	Spastic dysarthria	3	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0011446	HP:0001344	Absent speech	3	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011446	HP:0001344	Absent speech	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011446	HP:0001344	Absent speech	3	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011446	HP:0001344	Absent speech	3	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0011446	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:0011446	HP:0000726	Dementia	3	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0011446	HP:0000726	Dementia	3	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional		5
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0011446	HP:0001344	Absent speech	3	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0011446	HP:0002361	Psychomotor deterioration	3	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0011446	HP:0001344	Absent speech	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0011446	HP:0000726	Dementia	3	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0011446	HP:0000726	Dementia	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011446	HP:0031258	Delirium	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011446	HP:0000726	Dementia	3	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		133
HP:0011446	HP:0000726	Dementia	3	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040280 - Obligate		2
HP:0011446	HP:0002333	Motor deterioration	3	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0011446	HP:0001344	Absent speech	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0011446	HP:0012049	Laryngeal dystonia	3	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0011446	HP:0033687	Short term memory impairment	3	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	HP:0003584 - Late onset	69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent		69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0011446	HP:0002464	Spastic dysarthria	3	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0011446	HP:0007017	Progressive forgetfulness	3	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0011446	HP:0000726	Dementia	3	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.		69
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0011446	HP:0001344	Absent speech	3	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0011446	HP:0002361	Psychomotor deterioration	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		81
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011446	HP:0000726	Dementia	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0011446	HP:0002427	Expressive aphasia	3	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		241
HP:0011446	HP:0000726	Dementia	3	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0011446	HP:0030784	Anomic aphasia	3	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0000726	Dementia	3	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0011446	HP:0000726	Dementia	3	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0011446	HP:0000726	Dementia	3	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0011446	HP:0001344	Absent speech	3	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0011446	HP:0001344	Absent speech	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011446	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		665
HP:0011446	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0001344	Absent speech	3	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002474	Expressive language delay	3	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		665
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0011446	HP:0002474	Expressive language delay	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0011446	HP:0001344	Absent speech	3	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0011446	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:0011446	HP:0001344	Absent speech	3	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0011446	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:0011446	HP:0001344	Absent speech	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2	HP:0040283 - Occasional		67
HP:0011446	HP:0000726	Dementia	3	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	HP:0040283 - Occasional		34
HP:0011446	HP:0002464	Spastic dysarthria	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent		135
HP:0011446	HP:0001344	Absent speech	3	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0011446	HP:0001344	Absent speech	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0011446	HP:0001344	Absent speech	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.		3
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011446	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:0011446	HP:0007024	Pseudobulbar paralysis	3	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0011446	HP:0001344	Absent speech	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0011446	HP:0002333	Motor deterioration	3	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0011446	HP:0002333	Motor deterioration	3	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0011446	HP:0001344	Absent speech	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0011446	HP:0001344	Absent speech	3	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0011446	HP:0001344	Absent speech	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0011446	HP:0033687	Short term memory impairment	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0011446	HP:0002361	Psychomotor deterioration	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0011446	HP:0000726	Dementia	3	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.		10
HP:0011446	HP:0000726	Dementia	3	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		10
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011446	HP:0001344	Absent speech	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011446	HP:0000726	Dementia	3	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0011446	HP:0000726	Dementia	3	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0011446	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:0011446	HP:0033687	Short term memory impairment	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0011446	HP:0002361	Psychomotor deterioration	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0011446	HP:0000726	Dementia	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		125
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.		2
HP:0011446	HP:0031258	Delirium	3	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0011446	HP:0001344	Absent speech	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011446	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:0011446	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:0011446	HP:0000726	Dementia	3	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		77
HP:0011446	HP:0001344	Absent speech	3	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011446	HP:0001344	Absent speech	3	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011446	HP:0000726	Dementia	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0011446	HP:0002333	Motor deterioration	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011446	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:0011446	HP:0000726	Dementia	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0011446	HP:0002333	Motor deterioration	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011446	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:0011446	HP:0000726	Dementia	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0011446	HP:0002333	Motor deterioration	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011446	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:0011446	HP:0000726	Dementia	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0011446	HP:0002333	Motor deterioration	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011446	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:0011446	HP:0007024	Pseudobulbar paralysis	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0011446	HP:0008376	Nasal, dysarthic speech	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0011446	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:0011446	HP:0000726	Dementia	3	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0011446	HP:0001344	Absent speech	3	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0011446	HP:0010863	Receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0011446	HP:0002474	Expressive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0010863	Receptive language delay	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0011446	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		67
HP:0011446	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0001344	Absent speech	3	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	HP:0002474	Expressive language delay	3	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		67
HP:0011446	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:0011446	HP:0001344	Absent speech	3	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011446	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:0011446	HP:0001344	Absent speech	3	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011446	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0011446	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001344	Absent speech	3	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002474	Expressive language delay	3	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001344	Absent speech	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0011446	HP:0001344	Absent speech	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0011446	HP:0001344	Absent speech	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011446	HP:0001344	Absent speech	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0011446	HP:0000726	Dementia	3	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0011446	HP:0001344	Absent speech	3	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0011446	HP:0001344	Absent speech	3	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0011446	HP:0001344	Absent speech	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0011446	HP:0031258	Delirium	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0011446	HP:0011973	Paroxysmal lethargy	3	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0011446	HP:0001344	Absent speech	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0011446	HP:0001344	Absent speech	3	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0011446	HP:0001344	Absent speech	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0011446	HP:0001344	Absent speech	3	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011446	HP:0001344	Absent speech	3	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0011446	HP:0001344	Absent speech	3	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0011446	HP:0001344	Absent speech	3	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0011446	HP:0001344	Absent speech	3	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0011446	HP:0001344	Absent speech	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0011446	HP:0001344	Absent speech	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0011446	HP:0001344	Absent speech	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0011446	HP:0001344	Absent speech	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0011446	HP:0010534	Transient global amnesia	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0011446	HP:0001344	Absent speech	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0011446	HP:0001344	Absent speech	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011446	HP:0001344	Absent speech	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0011446	HP:0001344	Absent speech	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011446	HP:0010534	Transient global amnesia	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0011446	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:0011446	HP:0001344	Absent speech	3	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0011446	HP:0010534	Transient global amnesia	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0011446	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:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.		65
HP:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.		65
HP:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		65
HP:0011446	HP:0000726	Dementia	3	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0011446	HP:0000726	Dementia	3	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0011446	HP:0000726	Dementia	3	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.		2
HP:0011446	HP:0001344	Absent speech	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0011446	HP:0001344	Absent speech	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0011446	HP:0000726	Dementia	3	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0011446	HP:0001344	Absent speech	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0011446	HP:0001344	Absent speech	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0011446	HP:0002464	Spastic dysarthria	3	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0011446	HP:0000726	Dementia	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0011446	HP:0001344	Absent speech	3	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0011446	HP:0001344	Absent speech	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011446	HP:0000726	Dementia	3	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0011446	HP:0000726	Dementia	3	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040281 - Very frequent		28
HP:0011446	HP:0000726	Dementia	3	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0011446	HP:0002464	Spastic dysarthria	3	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent		171
HP:0011446	HP:0001344	Absent speech	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011446	HP:0001344	Absent speech	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011446	HP:0000726	Dementia	3	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0011446	HP:0000726	Dementia	3	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0011446	HP:0000726	Dementia	3	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0011446	HP:0001344	Absent speech	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0011446	HP:0002474	Expressive language delay	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.		138
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0011446	HP:0001344	Absent speech	3	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0011446	HP:0001344	Absent speech	3	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0001344	Absent speech	3	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0001325	Hypoglycemic coma	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0011446	HP:0000726	Dementia	3	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0011446	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		99
HP:0011446	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0011446	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0001344	Absent speech	3	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0002474	Expressive language delay	3	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		99
HP:0011446	HP:0001344	Absent speech	3	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0011446	HP:0001344	Absent speech	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0011446	HP:0012049	Laryngeal dystonia	3	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0011446	HP:0001344	Absent speech	3	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0011446	HP:0010534	Transient global amnesia	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0011446	HP:0001344	Absent speech	3	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0011446	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:0011446	HP:0007086	Social and occupational deterioration	3	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.		3
HP:0011446	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:0011446	HP:0002344	Progressive neurologic deterioration	3	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0011446	HP:0000726	Dementia	3	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000726	Dementia	3	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0011446	HP:0000726	Dementia	3	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0011446	HP:0001344	Absent speech	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0011446	HP:0000726	Dementia	3	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0011446	HP:0000726	Dementia	3	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0011446	HP:0001344	Absent speech	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0011446	HP:0000726	Dementia	3	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0011446	HP:0000726	Dementia	3	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0011446	HP:0001344	Absent speech	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0011446	HP:0001344	Absent speech	3	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0011446	HP:0001344	Absent speech	3	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0011446	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		1
HP:0011446	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0001344	Absent speech	3	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002474	Expressive language delay	3	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		1
HP:0011446	HP:0002464	Spastic dysarthria	3	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0011446	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:0011446	HP:0001344	Absent speech	3	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0011446	HP:0010534	Transient global amnesia	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0011446	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:0011446	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		32
HP:0011446	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0001344	Absent speech	3	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0002474	Expressive language delay	3	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		32
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0011446	HP:0012049	Laryngeal dystonia	3	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0011446	HP:0012049	Laryngeal dystonia	3	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional		42
HP:0011446	HP:0000726	Dementia	3	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0001344	Absent speech	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional		1
HP:0011446	HP:0001344	Absent speech	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0011446	HP:0000726	Dementia	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0011446	HP:0002333	Motor deterioration	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040281 - Very frequent		103
HP:0011446	HP:0001344	Absent speech	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0011446	HP:0001344	Absent speech	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0011446	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:0011446	HP:0000726	Dementia	3	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011446	HP:0001344	Absent speech	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0011446	HP:0000726	Dementia	3	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011446	HP:0002427	Expressive aphasia	3	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0011446	HP:0000726	Dementia	3	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0011446	HP:0030784	Anomic aphasia	3	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0011446	HP:0001344	Absent speech	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011446	HP:0001344	Absent speech	3	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0011446	HP:0001344	Absent speech	3	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.		5
HP:0011446	HP:0010534	Transient global amnesia	3	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0011446	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:0011446	HP:0001344	Absent speech	3	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0011446	HP:0001344	Absent speech	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0011446	HP:0000726	Dementia	3	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0011446	HP:0001344	Absent speech	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011446	HP:0000726	Dementia	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011446	HP:0010534	Transient global amnesia	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0011446	HP:0001344	Absent speech	3	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0011446	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:0011446	HP:0001344	Absent speech	3	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0011446	HP:0001344	Absent speech	3	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0011446	HP:0002427	Expressive aphasia	3	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		31
HP:0011446	HP:0000726	Dementia	3	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0011446	HP:0030784	Anomic aphasia	3	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0001344	Absent speech	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0011446	HP:0000726	Dementia	3	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0011446	HP:0007017	Progressive forgetfulness	3	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0011446	HP:0001344	Absent speech	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0011446	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:0011446	HP:0001344	Absent speech	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0011446	HP:0000726	Dementia	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0011446	HP:0031258	Delirium	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0011446	HP:0000726	Dementia	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0011446	HP:0000726	Dementia	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0011446	HP:0000726	Dementia	3	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0011446	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:0011446	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:0011446	HP:0033687	Short term memory impairment	3	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011446	HP:0000726	Dementia	3	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0011446	HP:0000726	Dementia	3	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0011446	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:0011446	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:0011446	HP:0000726	Dementia	3	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0011446	HP:0012049	Laryngeal dystonia	3	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040281 - Very frequent		66
HP:0011446	HP:0000726	Dementia	3	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0011446	HP:0000726	Dementia	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0011446	HP:0001325	Hypoglycemic coma	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0011446	HP:0000726	Dementia	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		138
HP:0011446	HP:0000726	Dementia	3	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0011446	HP:0000726	Dementia	3	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0011446	HP:0001344	Absent speech	3	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0011446	HP:0008376	Nasal, dysarthic speech	3	UBB CL E G H	7314	12463	ORPHA:99771	Bifid uvula	HP:0040282 - Frequent
HP:0011446	HP:0010863	Receptive language delay	3	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0011446	HP:0001344	Absent speech	3	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011446	HP:0001344	Absent speech	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011446	HP:0001344	Absent speech	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0011446	HP:0000726	Dementia	3	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0011446	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:0011446	HP:0000726	Dementia	3	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0011446	HP:0001325	Hypoglycemic coma	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0011446	HP:0001344	Absent speech	3	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0011446	HP:0001344	Absent speech	3	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0011446	HP:0001344	Absent speech	3	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0011446	HP:0001344	Absent speech	3	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0011446	HP:0001344	Absent speech	3	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105			3
HP:0011446	HP:0000726	Dementia	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011446	HP:0001344	Absent speech	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011446	HP:0001344	Absent speech	3	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome	.		2
HP:0011446	HP:0000726	Dementia	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011446	HP:0002464	Spastic dysarthria	3	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent		2
HP:0011446	HP:0001344	Absent speech	3	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0011446	HP:0002344	Progressive neurologic deterioration	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0011446	HP:0000726	Dementia	3	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0011446	HP:0002427	Expressive aphasia	3	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		63
HP:0011446	HP:0012049	Laryngeal dystonia	3	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0011446	HP:0001344	Absent speech	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0011446	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:0011446	HP:0000726	Dementia	3	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	HP:0040283 - Occasional		130
HP:0011446	HP:0012049	Laryngeal dystonia	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0011446	HP:0000726	Dementia	3	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.		8
HP:0011446	HP:0000726	Dementia	3	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0011446	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:0011446	HP:0001344	Absent speech	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011446	HP:0000726	Dementia	3	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		37
HP:0011446	HP:0001344	Absent speech	3	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011446	HP:0001344	Absent speech	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011446	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:0011446	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:0011446	HP:0002474	Expressive language delay	3	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0011446	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:0011446	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:0011446	HP:0001344	Absent speech	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0011446	HP:0001344	Absent speech	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0011446	HP:0001344	Absent speech	3	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0011446	HP:0000726	Dementia	3	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0011446	HP:0000726	Dementia	3	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0011446	HP:0001344	Absent speech	3	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0011446	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:0011446	HP:0000726	Dementia	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0011446	HP:0000726	Dementia	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent		389
HP:0011446	HP:0000726	Dementia	3	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0011446	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:0011446	HP:0001344	Absent speech	3	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0011446	HP:0001344	Absent speech	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0011446	HP:0010534	Transient global amnesia	3	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0011446	HP:0001344	Absent speech	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0011446	HP:0001344	Absent speech	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011446	HP:0001344	Absent speech	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0011446	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:0011446	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:0011446	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:0011446	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:0011446	HP:0000726	Dementia	3	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0011446	HP:0007024	Pseudobulbar paralysis	3	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0011446	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare		34
HP:0011446	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0001344	Absent speech	3	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0002474	Expressive language delay	3	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent		34
HP:0011446	HP:0010534	Transient global amnesia	3	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent		3
HP:0011446	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:0011446	HP:0011345	Moderate expressive language delay	4	CL E G H
HP:0011446	HP:0011346	Mild expressive language delay	4	CL E G H
HP:0011446	HP:0011350	Mild receptive language delay	4	CL E G H
HP:0011446	HP:0033689	Anterograde memory impairment	4	CL E G H
HP:0011446	HP:0033690	Retrograde memory impairment	4	CL E G H
HP:0011446	HP:0002145	Frontotemporal dementia	4	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	HP:0002145	Frontotemporal dementia	4	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0011446	HP:0006863	Severe expressive language delay	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0011446	HP:0006863	Severe expressive language delay	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0011446	HP:0002145	Frontotemporal dementia	4	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0011446	HP:0002145	Frontotemporal dementia	4	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002145	Frontotemporal dementia	4	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		56
HP:0011446	HP:0002145	Frontotemporal dementia	4	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0011446	HP:0002145	Frontotemporal dementia	4	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0011446	HP:0000727	Frontal lobe dementia	4	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0011446	HP:0002145	Frontotemporal dementia	4	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0011446	HP:0002145	Frontotemporal dementia	4	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		11
HP:0011446	HP:0002145	Frontotemporal dementia	4	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0011446	HP:0002145	Frontotemporal dementia	4	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0011446	HP:0002145	Frontotemporal dementia	4	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0011446	HP:0007064	Progressive language deterioration	4	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011446	HP:0007064	Progressive language deterioration	4	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0011446	HP:0000727	Frontal lobe dementia	4	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0011446	HP:0002145	Frontotemporal dementia	4	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0011446	HP:0002145	Frontotemporal dementia	4	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0011446	HP:0000727	Frontal lobe dementia	4	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0011446	HP:0006863	Severe expressive language delay	4	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011446	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:0011446	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:0011446	HP:0007123	Subcortical dementia	4	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0011446	HP:0000727	Frontal lobe dementia	4	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0011446	HP:0007123	Subcortical dementia	4	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0011446	HP:0002145	Frontotemporal dementia	4	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		105
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0011446	HP:0011352	Severe receptive language delay	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011446	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:0011446	HP:0002145	Frontotemporal dementia	4	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002145	Frontotemporal dementia	4	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0007064	Progressive language deterioration	4	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0011446	HP:0002145	Frontotemporal dementia	4	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0011446	HP:0002549	Deficit in phonologic short-term memory	4	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare		53
HP:0011446	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:0011446	HP:0007272	Progressive psychomotor deterioration	4	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0011446	HP:0002145	Frontotemporal dementia	4	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0011446	HP:0002145	Frontotemporal dementia	4	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.		5
HP:0011446	HP:0002145	Frontotemporal dementia	4	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0011446	HP:0000727	Frontal lobe dementia	4	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		39
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0011446	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:0011446	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:0011446	HP:0000727	Frontal lobe dementia	4	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0011446	HP:0002145	Frontotemporal dementia	4	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0011446	HP:0000727	Frontal lobe dementia	4	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0011446	HP:0002145	Frontotemporal dementia	4	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0011446	HP:0002145	Frontotemporal dementia	4	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0011446	HP:0002145	Frontotemporal dementia	4	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0011446	HP:0002549	Deficit in phonologic short-term memory	4	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent		140
HP:0011446	HP:0002439	Frontolimbic dementia	4	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0011446	HP:0007123	Subcortical dementia	4	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0011446	HP:0000727	Frontal lobe dementia	4	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		23
HP:0011446	HP:0000727	Frontal lobe dementia	4	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		55
HP:0011446	HP:0002145	Frontotemporal dementia	4	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0011446	HP:0002145	Frontotemporal dementia	4	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0011446	HP:0000727	Frontal lobe dementia	4	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0011446	HP:0006863	Severe expressive language delay	4	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0011446	HP:0002145	Frontotemporal dementia	4	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0011446	HP:0000727	Frontal lobe dementia	4	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		138
HP:0011446	HP:0002549	Deficit in phonologic short-term memory	4	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0011446	HP:0000727	Frontal lobe dementia	4	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0011446	HP:0002145	Frontotemporal dementia	4	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0011446	HP:0002549	Deficit in phonologic short-term memory	4	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0011446	HP:0002549	Deficit in phonologic short-term memory	4	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0011446	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:0011446	HP:0007272	Progressive psychomotor deterioration	4	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0011446	HP:0007272	Progressive psychomotor deterioration	4	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0011446	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:0011446	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:0011446	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:0011446	HP:0000727	Frontal lobe dementia	4	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0011446	HP:0002145	Frontotemporal dementia	4	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0011446	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:0011446	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:0011446	HP:0002145	Frontotemporal dementia	4	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0011446	HP:0002145	Frontotemporal dementia	4	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0011446	HP:0002145	Frontotemporal dementia	4	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		62
HP:0011446	HP:0007307	Rapid neurologic deterioration	4	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0011446	HP:0007307	Rapid neurologic deterioration	4	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0011446	HP:0000727	Frontal lobe dementia	4	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		9
HP:0011446	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:0011446	HP:0002145	Frontotemporal dementia	4	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0011446	HP:0002145	Frontotemporal dementia	4	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		65
HP:0011446	HP:0002145	Frontotemporal dementia	4	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0011446	HP:0002145	Frontotemporal dementia	4	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		20
HP:0011446	HP:0000727	Frontal lobe dementia	4	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0011446	HP:0002145	Frontotemporal dementia	4	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0011446	HP:0002145	Frontotemporal dementia	4	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0011446	HP:0002145	Frontotemporal dementia	4	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0011446	HP:0002145	Frontotemporal dementia	4	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0011446	HP:0002145	Frontotemporal dementia	4	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002145	Frontotemporal dementia	4	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0011446	HP:0000727	Frontal lobe dementia	4	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0011446	HP:0002145	Frontotemporal dementia	4	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0011446	HP:0002145	Frontotemporal dementia	4	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	HP:0040283 - Occasional		6
HP:0011446	HP:0000727	Frontal lobe dementia	4	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0011446	HP:0000727	Frontal lobe dementia	4	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0011446	HP:0002145	Frontotemporal dementia	4	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.		20
HP:0011446	HP:0000727	Frontal lobe dementia	4	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		21
HP:0011446	HP:0002145	Frontotemporal dementia	4	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0011446	HP:0002145	Frontotemporal dementia	4	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		63
HP:0011446	HP:0002145	Frontotemporal dementia	4	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0011446	HP:0002145	Frontotemporal dementia	4	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0011446	HP:0002145	Frontotemporal dementia	4	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0011446	HP:0000727	Frontal lobe dementia	4	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0011446	HP:0002145	Frontotemporal dementia	4	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0011446	HP:0033691	Procedural memory loss	5	CL E G H
HP:0011446	HP:0033692	Declarative memory loss	5	CL E G H
HP:0011446	HP:0030219	Semantic dementia	5	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0030219	Semantic dementia	5	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0011446	HP:0030219	Semantic dementia	5	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0011446	HP:0030219	Semantic dementia	5	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0011446	HP:0030219	Semantic dementia	5	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0011446	HP:0030219	Semantic dementia	5	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0011446	HP:0030219	Semantic dementia	5	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31

Genes (2685) :AAAS AARS1 AARS2 AASS ABAT ABCA12 ABCA2 ABCA4 ABCA5 ABCA7 ABCB7 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABHD16A ABHD5 ACAD8 ACADM ACADS ACADSB ACADVL ACAT1 ACBD5 ACD ACER3 ACO2 ACOX1 ACOX2 ACP5 ACSF3 ACSL4 ACTA2 ACTB ACTG1 ACTL6B ACVR1 ADA2 ADAM22 ADAMTS10 ADAMTS13 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADARB1 ADAT3 ADCY3 ADCY5 ADD3 ADGRG1 ADGRL1 ADGRV1 ADH1C ADH5 ADK ADNP ADORA2A ADPRS ADRA2B ADSL AFF2 AFF3 AFF4 AFG3L2 AGA AGBL5 AGGF1 AGL AGO2 AGPAT2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP2 AIPL1 AK9 AKT1 AKT2 AKT3 ALAD ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALS2 ALX1 ALX3 ALX4 AMACR AMER1 AMMECR1 AMN AMT ANAPC1 ANK1 ANK3 ANKLE2 ANKRD11 ANKRD17 ANO10 ANOS1 ANTXR1 ANXA11 AP1B1 AP1G1 AP1S1 AP1S2 AP2M1 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOE APOL2 APOL4 APP APTX AQP2 AR ARCN1 ARF1 ARFGEF1 ARFGEF2 ARG1 ARHGAP29 ARHGAP31 ARHGDIA ARHGEF18 ARHGEF2 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC5 ARMC9 ARNT2 ARPC4 ARSA ARSI ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASL ASPA ASPM ASPRV1 ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATG7 ATIC ATL1 ATM ATN1 ATP10A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP2B3 ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATR ATRIP ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 AVP AVPR2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 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 BEAN1 BEST1 BICD2 BICRA BIN1 BLM BLTP1 BMP4 BMP6 BMPR1A BMPR1B BNC2 BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BUB1 BUB1B BUB3 BUD23 C12ORF4 C12ORF57 C19ORF12 C2CD3 C4A C9ORF72 CA2 CA4 CA5A CA8 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1H CACNA2D1 CACNA2D2 CACNB4 CACNG2 CAD CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CAPN1 CAPN15 CARS1 CARS2 CASK CASR CASZ1 CAV1 CAVIN1 CBL CBS CBY1 CC2D1A CC2D2A CCBE1 CCDC103 CCDC141 CCDC174 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCDC78 CCDC88A CCDC88C CCM2 CCND2 CCNF CCNO CCR1 CD96 CDC40 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH15 CDH2 CDH23 CDHR1 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDK8 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CDT1 CELF2 CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP19 CEP290 CEP41 CEP57 CEP63 CEP83 CEP85L CERKL CERS1 CERT1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP43 CFH CFHR1 CFHR3 CHAMP1 CHAT CHCHD10 CHD1 CHD2 CHD3 CHD4 CHD5 CHD7 CHD8 CHI3L1 CHKA CHKB CHMP1A CHMP2B CHP1 CHRM3 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST14 CHSY1 CIB2 CIC CIITA CISD2 CIT CIZ1 CKAP2L CLCF1 CLCN3 CLCN4 CLCNKA CLCNKB CLDN11 CLIC2 CLIP2 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLRN1 CLTC CLTRN CNGA1 CNGB1 CNKSR2 CNNM2 CNOT1 CNOT2 CNOT3 CNPY3 CNTN2 CNTNAP2 COA3 COA7 COA8 COASY COG1 COG2 COG4 COG5 COG6 COG8 COL13A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL6A3 COL9A3 COLEC10 COLEC11 COLQ COMT COPB1 COPB2 COQ2 COQ4 COQ8A COX1 COX15 COX2 COX20 COX3 COX5A COX6B1 COX7B CP CPA6 CPE CPLANE1 CPLX1 CPOX CPS1 CPSF3 CPT1A CPT2 CRADD CRAT CRB1 CRBN CREBBP CRH CRKL CRLF1 CRPPA CRX CRYAB CSF1R CSGALNACT1 CSNK2A1 CSNK2B CSPP1 CST3 CSTB CTBP1 CTC1 CTCF CTDP1 CTH CTNNA2 CTNNB1 CTNND2 CTNS CTSA CTSD CTSF CTSH CUBN CUL3 CUL4B CUX1 CUX2 CWC27 CWF19L1 CXCR4 CYB5A CYB5R3 CYC1 CYFIP2 CYLD CYP24A1 CYP27A1 CYP2U1 CYP4F22 CYP7B1 CYTB D2HGDH DAB1 DACT1 DAG1 DALRD3 DAOA DARS1 DARS2 DBT DCAF17 DCC DCDC2 DCHS1 DCPS DCTN1 DCX DDB1 DDB2 DDC DDHD2 DDOST DDX11 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DEPDC5 DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHPS DHTKD1 DHX16 DHX30 DHX38 DIAPH1 DIP2B DIS3L2 DISC2 DISP1 DKC1 DLAT DLD DLG1 DLG3 DLG4 DLK1 DLL1 DLL3 DLL4 DLST DLX4 DLX5 DMD DMPK DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB2 DNAJB6 DNAJC12 DNAJC13 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAJC5 DNAJC6 DNAL1 DNAL4 DNM1 DNM1L DNMT1 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOHH DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH5 DPM2 DPM3 DPP6 DPYD DPYS DPYSL5 DRC1 DRD3 DSG4 DSTYK DTYMK DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EARS2 EBF3 EBP ECE1 ECHS1 ECM1 EDA EDC3 EDEM3 EDN3 EDNRB EED EEF1A2 EEF2 EFEMP2 EFL1 EFNB1 EFTUD2 EGF EHMT1 EIF2AK1 EIF2AK2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF4A3 EIF4G1 EIF4H ELMO2 ELN ELOVL1 ELOVL4 ELOVL5 ELP2 EMC1 EMC10 EMILIN1 EML1 EN1 ENTPD1 EOGT EP300 EPAS1 EPB41L1 EPCAM EPG5 EPM2A EPRS1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN1 ERLIN2 ERMARD ESCO2 ESPN ESS2 ETFA ETFB ETFDH ETHE1 EVC EVC2 EXOC6B EXOSC2 EXOSC3 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FA2H FAM149B1 FAM161A FAM50A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FAT2 FAT4 FBLN1 FBLN5 FBN1 FBP1 FBXL3 FBXO11 FBXO28 FBXO31 FBXO7 FBXW11 FBXW7 FCSK FDXR FEZF1 FGD1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP6 FKRP FKTN FLCN FLG FLI1 FLII FLNA FLNB FLRT1 FLRT3 FLVCR1 FMN2 FMR1 FOCAD FOLR1 FOS FOXE1 FOXG1 FOXH1 FOXI1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA16E FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMD5 FRMPD4 FRRS1L FSCN2 FTCD FTL FTSJ1 FUCA1 FUS FUT8 FUZ FXN FZD2 FZD4 FZR1 GAA GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GALK1 GALNT2 GALT GAMT GAN GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GATAD2B GATM GBA1 GBA2 GBE1 GBF1 GCDH GCH1 GCK GCLC GCSH GDAP2 GDF3 GDF5 GDF6 GDI1 GDNF GEMIN4 GEMIN5 GFAP GFM2 GFPT1 GGT1 GHR GIGYF2 GIPC1 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJC2 GK GLA GLB1 GLDC GLE1 GLI1 GLI2 GLI3 GLRA1 GLRA2 GLRB GLRX5 GLS GLUD1 GLUD2 GLYCTK GM2A GMNN GMPPA GMPPB GNA11 GNAI1 GNAL GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNE GNPAT GNPTAB GNPTG GNS GORAB GOSR2 GOT2 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 GSN GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1B GUCY2D GUF1 GUSB GYS2 H1-4 H19 H3-3A H4C11 H4C3 H4C5 H4C9 HAAO HACE1 HADH HADHA HADHB HAL HAMP HAX1 HBA1 HBA2 HCCS HCFC1 HCN1 HCN4 HCRT HDAC4 HDAC6 HDAC8 HDC HEATR3 HECW2 HELLS HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEXB HFE HGSNAT HHAT HIBCH HID1 HIKESHI HINT1 HIRA HIVEP2 HJV HK1 HLA-B HLA-DQB1 HLA-DRB1 HLCS HMBS HMGA2 HMGB3 HMGCL HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXA2 HOXB1 HPCA HPD HPDL HPRT1 HRAS HS2ST1 HS6ST1 HS6ST2 HSD17B10 HSD17B4 HSPD1 HSPG2 HTR2A HTRA1 HTRA2 HTT HUWE1 HYCC1 HYDIN HYLS1 IARS1 IBA57 IDH3A IDH3B IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFRD1 IFT140 IFT172 IFT27 IFT74 IFT88 IGBP1 IGF1 IGF1R IGF2 IKBKG IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL17RD IL18BP IL1RAPL1 IL23R IMPA1 IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INS INSR INTS1 INTS8 INTU IPO8 IPW IQCB1 IQSEC1 IQSEC2 IRAK1 IREB2 IRF2BPL IRF5 IRF6 IRX5 ISCA2 ITGA7 ITGB6 ITM2B ITPR1 IVD IYD JAG1 JAG2 JAK2 JAM2 JMJD1C JPH3 JRK KANK1 KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNE1 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN2 KCNN3 KCNQ1 KCNQ1OT1 KCNQ2 KCNQ5 KCNT1 KCTD17 KCTD7 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDSR KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1B KIF1C KIF4A KIF5A KIF5C KIF7 KIFBP KIT KIZ KLC2 KLF13 KLHL15 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KRIT1 KRT18 KRT81 KRT83 KRT86 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMP2 LARGE1 LARP7 LARS2 LAS1L LBR LCA5 LDHD LEMD3 LETM1 LFNG LGI1 LGI3 LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LINGO1 LINS1 LIPN LIPT1 LIPT2 LMAN2L LMBR1 LMBRD1 LMBRD2 LMNA LMNB1 LMNB2 LMX1B LNPK LONP1 LPIN1 LRAT LRP12 LRP2 LRP4 LRP5 LRPPRC LRRC32 LRRC56 LRRK1 LRRK2 LSM11 LSS LTBP1 LTBP2 LTBP4 LUZP1 LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MACF1 MAD2L2 MADD MAF MAG MAGEL2 MAGT1 MAK MAN1B1 MAN2B1 MAN2C1 MANBA MAOA MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK10 MAPK8IP3 MAPRE2 MAPT MARCHF6 MARS1 MARS2 MASP1 MAST1 MAT1A MATR3 MAX MBD5 MBOAT7 MBTPS2 MC2R MCCC1 MCCC2 MCIDAS MCM3AP MCM7 MCOLN1 MCPH1 MCTP2 MDH2 MECOM MECP2 MECR MED12 MED12L MED13 MED13L MED23 MED25 MED27 MEF2C MEFV MEG3 MEGF8 MEIS2 MEN1 MEOX1 MERTK MESD MESP2 METTL23 METTL27 METTL5 MFF MFN2 MFSD2A MFSD8 MGAT2 MGME1 MGP MIA3 MICOS13 MICU1 MID1 MID2 MINPP1 MIR17HG MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MME MMEL1 MMP14 MMP2 MMP23B MMUT MN1 MOCS1 MOG MORC2 MPDU1 MPDZ MPL MPLKIP MPO MRAP MRAS MRE11 MRPL12 MRPS14 MRPS16 MRPS2 MRPS34 MSH2 MSH6 MSL3 MSMO1 MSTO1 MSX1 MSX2 MTFMT MTHFD1 MTHFR MTHFS MTO1 MTOR MTPAP MTR MTRFR MTRR MTSS2 MTTP MUSK MVK MYCN MYD88 MYH3 MYH7 MYMK MYMX MYO1H MYO5A MYO7A MYO9A MYOD1 MYORG MYOT MYRF MYSM1 MYT1L NAA10 NAA15 NAA20 NAB2 NACC1 NAGA NAGLU NAGS NALCN NANS NAPB NARS1 NARS2 NAXD NAXE NBAS NBEA NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCDN NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDN NDNF NDP NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEDD4L NEFH NEFL NEK1 NEK10 NEK2 NELFA NEMF NEU1 NEUROD2 NEXMIF NF1 NF2 NFASC NFE2L2 NFIA NFIX NFKB2 NFS1 NFU1 NGF NGLY1 NHLRC1 NHP2 NHS NIN NIPA1 NIPA2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX6-2 NLGN3 NLGN4X NLRP3 NME8 NMNAT1 NNT NODAL NONO NOP10 NOP56 NOS3 NOTCH1 NOTCH2NLC NOTCH3 NOVA2 NPAP1 NPC1 NPC2 NPHP1 NPPA NPRL2 NPRL3 NR2E3 NR2F1 NR3C1 NR4A2 NRAS NRCAM NRL NRTN NRXN1 NSD1 NSD2 NSDHL NSF NSRP1 NSUN2 NT5C2 NTN1 NTNG1 NTNG2 NTRK1 NTRK2 NUBPL NUDT2 NUP107 NUP133 NUP62 NUP85 NUP88 NUS1 NUTM2B-AS1 NXN OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OGT OPA1 OPA3 OPHN1 OPTN ORAI1 ORC1 ORC4 ORC6 OSGEP OTC OTUD5 OTUD6B OTX2 P2RY11 P4HTM PABPN1 PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK2 PAK3 PALB2 PANK2 PARK7 PARN PARS2 PAX1 PAX2 PAX3 PAX6 PAX8 PBX1 PC PCARE PCCA PCCB PCDH12 PCDH15 PCDH19 PCDHGC4 PCGF2 PCNA PCNT PCYT1A PCYT2 PDCD10 PDCD6IP PDE10A PDE11A PDE2A PDE4D PDE6A PDE6B PDE6D PDE6G PDE8B PDGFB PDGFRA PDGFRB PDHA1 PDHX PDP1 PDPN PDSS1 PDX1 PDYN PDZD8 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHKA2 PHKB PHKG2 PHOX2B PHYH PI4KA PIBF1 PIDD1 PIEZO2 PIGA PIGC PIGF PIGG PIGH PIGL PIGM PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PIK3R5 PINK1 PISD PITRM1 PITX3 PKHD1 PLA2G6 PLAA PLAG1 PLAU PLCH1 PLD3 PLEC PLEKHG2 PLEKHG4 PLK4 PLP1 PLPBP PMM2 PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNP PNPLA2 PNPLA6 PNPLA8 PNPT1 PODXL POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3GL POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU2AF1 POU3F3 POU3F4 POU4F1 PPARG PPFIBP1 PPIL1 PPM1B PPM1D PPOX PPP1CB PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R2B PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM13 PRDM16 PRDM8 PRDX1 PRDX3 PREPL PRF1 PRICKLE1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCG PRKCZ PRKD1 PRKN PRKRA PRMT7 PRNP PRODH PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PSAP PSEN1 PSEN2 PSMB1 PSMB8 PSMC1 PSMD12 PSMG2 PSPH PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTPN11 PTPN22 PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QDPR QRICH1 RAB11B RAB18 RAB23 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC3 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RALA RALGAPA1 RANBP2 RAPSN RARB RARS1 RARS2 RASA2 RB1 RBBP8 RBM10 RBM12 RBM28 RBM8A RBMX RBP3 RBPJ RCBTB1 RD3 RDH11 RDH12 RECQL4 REEP1 REEP2 REEP6 RELN REPS1 RERE RET RFC1 RFC2 RFT1 RFWD3 RFX5 RFXANK RFXAP RGR RHO RHOBTB2 RIC1 RILPL1 RIMS2 RIN2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF13 RNF135 RNF170 RNF2 RNF213 RNF216 RNF220 RNR1 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 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTEL1 RTL1 RTN4IP1 RTN4R RTTN RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SALL1 SAMD12 SAMD9L SAMHD1 SAR1B SARDH SARS1 SASS6 SATB1 SATB2 SBDS SBF2 SC5D SCAPER SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN8A SCN9A SCNM1 SCO2 SCUBE3 SCYL1 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC31A SEC61A1 SECISBP2 SELENOI SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEMA6B SEPSECS SEPTIN9 SERAC1 SERPINI1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETX SF3B2 SF3B4 SFXN4 SGCB SGPL1 SGSH SH2B1 SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHQ1 SHROOM4 SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIN3B SIX3 SKI SKIC2 SKIC3 SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A6 SLC13A3 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A11 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A4 SLC25A42 SLC25A46 SLC26A4 SLC29A3 SLC2A1 SLC2A10 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC37A4 SLC38A3 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC44A1 SLC45A1 SLC46A1 SLC4A1 SLC4A4 SLC52A1 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A20 SLC6A3 SLC6A5 SLC6A8 SLC7A14 SLC7A6OS SLC7A7 SLC9A1 SLC9A6 SLC9A7 SLITRK1 SLITRK6 SLX4 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMO SMOC1 SMPD1 SMS SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNCB SNORD115-1 SNORD116-1 SNORD118 SNRNP200 SNRPB SNRPN SNX14 SOBP SOD1 SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX5 SOX6 SPAG1 SPARC SPART SPAST SPATA5 SPATA5L1 SPATA7 SPEF2 SPEG SPEN SPG11 SPG21 SPG7 SPIB SPINK5 SPOP SPP1 SPR SPRED1 SPRED2 SPRY4 SPTAN1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQOR SQSTM1 SRCAP SRD5A3 SREBF1 SRP54 SRPX2 SRY SSR4 ST3GAL3 ST3GAL5 STAC3 STAG1 STAG2 STAR STARD7 STAT3 STAT4 STAT6 STEEP1 STIL STIM1 STK36 STRA6 STRADA STS STT3A STT3B STUB1 STX11 STX16 STX1A STX1B STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUOX SUPT16H SURF1 SUZ12 SVBP SYN1 SYN2 SYNE1 SYNGAP1 SYNJ1 SYP SYT1 SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TACR3 TAF1 TAF13 TAF2 TAF6 TAF8 TANC2 TANGO2 TAOK1 TARDBP TARS1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX4 TBXAS1 TCF12 TCF20 TCF4 TCIRG1 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TDP2 TECPR2 TECR TELO2 TENM3 TENT5A TERT TET3 TFAP2A TFAP2B TFE3 TG TGFB1 TGFBR1 TGFBR2 TGIF1 TGM1 TGM6 TH THAP1 THG1L THOC2 THOC6 THPO THRA THRB THUMPD1 TIA1 TIAM1 TICAM1 TIMM50 TIMM8A TIMMDC1 TINF2 TK2 TKFC TKT TLK2 TLR3 TLR4 TM4SF20 TMCO1 TMEM106B TMEM107 TMEM126B TMEM127 TMEM138 TMEM147 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63C TMEM67 TMEM70 TMEM94 TMLHE TMPRSS6 TMTC3 TMX2 TNFRSF11A TNFSF15 TNFSF4 TNIK TNPO2 TNPO3 TNR TNRC6B TOE1 TOGARAM1 TOMM40 TONSL TOP3A TOPORS TOR1A TP53 TP53RK TP63 TPK1 TPO TPP1 TPRKB TPRN TRAF3 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREM2 TREX1 TRH TRHR TRIM32 TRIM37 TRIM8 TRIO TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM7 TRPS1 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSFM TSHB TSHR TSPAN12 TSPAN7 TSPOAP1 TSR2 TTBK2 TTC12 TTC19 TTC26 TTC5 TTC8 TTI2 TTN TTPA TTR TUB TUBA1A TUBA4A TUBA8 TUBB TUBB2B TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP4 TUBGCP6 TULP1 TUSC3 TWIST1 TWIST2 TWNK TXNRD2 TYMP TYROBP UBA1 UBA2 UBA5 UBAC2 UBAP1 UBB UBE2A UBE2T UBE3A UBE3B UBE4A UBE4B UBQLN2 UBR1 UBR7 UBTF UCHL1 UCP2 UFC1 UFD1 UFM1 UFSP2 UGP2 UGT1A1 UNC13D UNC80 UNC93B1 UPB1 UPF3B UQCC2 UQCRQ UROC1 USF3 USH1C USH1G USH2A USP18 USP27X USP45 USP48 USP7 USP8 USP9X VAC14 VAMP1 VAMP2 VAPB VARS1 VCP VHL VLDLR VPS11 VPS13A VPS13B VPS13C VPS13D VPS16 VPS33A VPS35 VPS35L VPS37A VPS37D VPS41 VPS4A VPS53 VRK1 VWA3B WAC WARS2 WASF1 WASHC4 WASHC5 WDFY3 WDPCP WDR11 WDR26 WDR37 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WIPI2 WLS WNT5A WT1 WWOX XK XPA XPC XPNPEP3 XPR1 XRCC1 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YARS2 YEATS2 YIF1B YME1L1 YWHAG YY1 YY1AP1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZBTB7A ZC3H14 ZC4H2 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF148 ZNF292 ZNF365 ZNF407 ZNF408 ZNF423 ZNF462 ZNF513 ZNF592 ZNF699 ZNF711 ZNHIT3 ZSWIM6

Diseases (3319) :OMIM:231550 OMIM:619661 ORPHA:442835 OMIM:615889 ORPHA:2203 OMIM:238700 ORPHA:3124 OMIM:613163 ORPHA:313 OMIM:618808 ORPHA:791 ORPHA:2026 OMIM:608907 ORPHA:1020 OMIM:301310 ORPHA:2802 ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:99885 OMIM:239850 ORPHA:1517 OMIM:300100 ORPHA:139399 ORPHA:388 ORPHA:139396 OMIM:614857 OMIM:612674 OMIM:619735 OMIM:275630 ORPHA:79159 OMIM:201450 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:610006 ORPHA:26793 OMIM:201475 OMIM:203750 ORPHA:134 OMIM:618863 ORPHA:3322 OMIM:617762 OMIM:614559 OMIM:618960 ORPHA:2971 OMIM:264470 OMIM:617308 ORPHA:1855 OMIM:607944 ORPHA:289504 ORPHA:86818 OMIM:300387 ORPHA:2573 ORPHA:2995 OMIM:243310 ORPHA:79107 OMIM:607371 OMIM:614583 OMIM:618468 OMIM:618470 ORPHA:337 OMIM:135100 ORPHA:124 OMIM:182410 ORPHA:820 OMIM:615688 OMIM:617933 ORPHA:3449 OMIM:277600 OMIM:274150 ORPHA:1901 ORPHA:2136 ORPHA:1885 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:168600 OMIM:619151 OMIM:614300 ORPHA:404448 OMIM:615873 ORPHA:363549 OMIM:618170 ORPHA:86814 OMIM:103050 ORPHA:46 ORPHA:100973 OMIM:309548 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:313772 OMIM:614487 OMIM:610246 ORPHA:101109 OMIM:208400 ORPHA:93 ORPHA:90308 ORPHA:366 OMIM:619149 ORPHA:528 ORPHA:98913 ORPHA:98914 OMIM:618276 OMIM:613752 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2850 OMIM:203650 OMIM:310490 ORPHA:83629 ORPHA:238329 OMIM:300232 ORPHA:101078 OMIM:618006 ORPHA:65 ORPHA:201 OMIM:615109 ORPHA:2495 ORPHA:744 OMIM:176920 ORPHA:293964 ORPHA:99802 OMIM:615937 ORPHA:100924 ORPHA:35664 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:219150 OMIM:601162 OMIM:616586 ORPHA:816 OMIM:270200 ORPHA:79101 OMIM:239510 OMIM:271980 ORPHA:22 OMIM:266100 ORPHA:3006 ORPHA:57 OMIM:611881 OMIM:229600 ORPHA:469 ORPHA:79327 ORPHA:280071 OMIM:613661 ORPHA:79324 ORPHA:324422 OMIM:300884 OMIM:619031 ORPHA:79326 OMIM:607906 ORPHA:79328 OMIM:608776 OMIM:618504 ORPHA:64 OMIM:242100 OMIM:205100 ORPHA:293168 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:60015 OMIM:613451 ORPHA:228390 ORPHA:52022 OMIM:614307 ORPHA:79095 OMIM:300373 ORPHA:2780 OMIM:300990 ORPHA:35858 OMIM:605899 ORPHA:221008 ORPHA:251066 ORPHA:356996 OMIM:615493 ORPHA:2512 ORPHA:261250 OMIM:148050 OMIM:619504 ORPHA:284289 OMIM:613728 ORPHA:478 OMIM:230740 OMIM:619733 OMIM:242150 ORPHA:171851 OMIM:619467 OMIM:619548 OMIM:609313 ORPHA:85335 OMIM:304340 ORPHA:85329 OMIM:618587 ORPHA:1942 OMIM:608233 OMIM:617276 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:184450 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 ORPHA:261584 ORPHA:79665 OMIM:618677 ORPHA:821 OMIM:617169 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:181500 ORPHA:100006 ORPHA:324708 ORPHA:324713 ORPHA:324703 OMIM:104300 OMIM:605714 OMIM:208920 OMIM:125800 ORPHA:481 OMIM:313200 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:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:612291 OMIM:618161 ORPHA:110 OMIM:209900 OMIM:600151 ORPHA:1556 ORPHA:189427 OMIM:617622 ORPHA:3157 OMIM:620141 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:401815 OMIM:617020 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 OMIM:300419 OMIM:309510 ORPHA:94083 ORPHA:452 ORPHA:3175 ORPHA:333 OMIM:228000 OMIM:159950 ORPHA:2590 ORPHA:99803 OMIM:617796 OMIM:207900 ORPHA:23 ORPHA:314918 ORPHA:314911 OMIM:608716 OMIM:215700 OMIM:605039 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:3197 OMIM:617183 ORPHA:496790 OMIM:601238 ORPHA:94122 OMIM:617584 OMIM:619422 ORPHA:250977 OMIM:608688 ORPHA:100984 OMIM:182600 ORPHA:100 OMIM:208900 OMIM:618494 ORPHA:101 OMIM:125370 ORPHA:411515 ORPHA:314632 ORPHA:513436 ORPHA:306674 OMIM:606693 OMIM:617225 ORPHA:564178 ORPHA:2131 OMIM:104290 OMIM:619605 ORPHA:569 OMIM:602481 OMIM:614820 OMIM:601338 ORPHA:1171 OMIM:619606 OMIM:128235 ORPHA:71517 OMIM:124200 OMIM:619910 OMIM:302500 ORPHA:314978 OMIM:618120 OMIM:614053 OMIM:619681 OMIM:618683 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:3473 OMIM:616455 OMIM:309400 ORPHA:565 ORPHA:198 OMIM:277900 ORPHA:905 OMIM:615268 ORPHA:1766 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 ORPHA:96253 OMIM:309580 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 OMIM:608768 ORPHA:98760 ORPHA:67046 OMIM:250950 ORPHA:352490 OMIM:615834 ORPHA:30925 OMIM:304800 ORPHA:588 OMIM:615181 ORPHA:899 ORPHA:536467 ORPHA:93359 ORPHA:709 OMIM:261540 ORPHA:101006 OMIM:609195 OMIM:617120 OMIM:619762 ORPHA:904 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:615982 OMIM:615983 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:661 ORPHA:893 OMIM:117210 ORPHA:217012 OMIM:615290 OMIM:619325 ORPHA:169186 OMIM:255200 OMIM:210900 OMIM:617822 OMIM:607932 ORPHA:465508 ORPHA:440437 ORPHA:79076 OMIM:616849 ORPHA:93110 OMIM:614299 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 ORPHA:54595 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 OMIM:618056 ORPHA:84 OMIM:617883 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:602522 ORPHA:79241 OMIM:253260 OMIM:300755 ORPHA:1052 OMIM:257300 OMIM:618221 OMIM:218340 ORPHA:1777 ORPHA:289560 OMIM:614298 OMIM:615043 ORPHA:434179 OMIM:615948 ORPHA:117 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:401901 ORPHA:100070 ORPHA:100069 ORPHA:2785 OMIM:259730 OMIM:615751 OMIM:613227 ORPHA:98784 ORPHA:71518 OMIM:617106 OMIM:108500 ORPHA:97 ORPHA:2382 OMIM:141500 OMIM:183086 ORPHA:98758 OMIM:618497 OMIM:620029 OMIM:601005 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:616795 OMIM:618087 ORPHA:458803 ORPHA:64280 OMIM:618501 OMIM:607682 ORPHA:211067 OMIM:613855 OMIM:614256 OMIM:616457 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:314647 OMIM:251450 ORPHA:1425 ORPHA:488594 OMIM:616907 OMIM:619318 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:428 ORPHA:1606 ORPHA:648 OMIM:613563 ORPHA:394 OMIM:236200 OMIM:608443 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:244 OMIM:616816 ORPHA:7 OMIM:300963 OMIM:618268 OMIM:614807 OMIM:617507 OMIM:236600 OMIM:616053 ORPHA:423275 ORPHA:221061 OMIM:615938 OMIM:619141 ORPHA:1308 OMIM:619302 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 ORPHA:2268 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:612580 OMIM:618929 ORPHA:231169 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:604804 OMIM:616080 OMIM:618748 ORPHA:3095 OMIM:300672 ORPHA:652 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:95496 ORPHA:220386 ORPHA:280195 OMIM:619561 OMIM:608393 OMIM:613676 OMIM:619988 OMIM:616781 OMIM:617761 OMIM:614673 OMIM:613823 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:235400 OMIM:616579 OMIM:615911 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 OMIM:618438 ORPHA:2970 OMIM:601462 OMIM:608930 OMIM:610353 OMIM:600513 ORPHA:199318 OMIM:612001 OMIM:608931 ORPHA:2990 OMIM:601776 ORPHA:363417 OMIM:617600 ORPHA:572 ORPHA:3463 OMIM:617090 ORPHA:420492 OMIM:272440 ORPHA:3255 ORPHA:1545 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:613090 ORPHA:358 OMIM:619328 OMIM:300886 ORPHA:324410 ORPHA:2301 OMIM:204200 ORPHA:228346 OMIM:256731 ORPHA:228360 OMIM:204300 OMIM:601780 OMIM:600143 OMIM:610003 ORPHA:1947 ORPHA:411493 OMIM:615803 ORPHA:445038 OMIM:616271 OMIM:619835 OMIM:617854 ORPHA:2116 OMIM:301008 OMIM:616418 OMIM:619033 OMIM:618608 OMIM:618672 OMIM:617929 ORPHA:163681 OMIM:610042 OMIM:619058 OMIM:618387 OMIM:619061 ORPHA:436271 ORPHA:397725 OMIM:615643 ORPHA:263508 OMIM:611209 ORPHA:435934 ORPHA:263501 OMIM:613489 OMIM:618150 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:95428 OMIM:611182 OMIM:267750 ORPHA:1899 ORPHA:230851 ORPHA:85198 ORPHA:90653 ORPHA:2500 OMIM:618343 ORPHA:286 OMIM:175780 OMIM:618564 OMIM:616411 ORPHA:464440 OMIM:620022 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:603034 ORPHA:98915 OMIM:619255 OMIM:619884 OMIM:607426 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:616276 ORPHA:139485 OMIM:612016 ORPHA:99845 ORPHA:550 OMIM:540000 ORPHA:255241 OMIM:619054 OMIM:619064 OMIM:619051 ORPHA:2556 OMIM:309801 ORPHA:48818 OMIM:604290 OMIM:614417 OMIM:619326 OMIM:614615 ORPHA:2754 OMIM:277170 OMIM:617976 ORPHA:352582 ORPHA:280 OMIM:194190 OMIM:121300 OMIM:237300 OMIM:619876 ORPHA:156 OMIM:255120 ORPHA:228308 OMIM:600649 OMIM:608836 OMIM:614212 OMIM:614499 OMIM:617917 OMIM:607417 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:272430 ORPHA:352479 OMIM:614643 ORPHA:399058 OMIM:618476 OMIM:221820 OMIM:617062 OMIM:618732 OMIM:615636 ORPHA:397715 OMIM:105150 OMIM:254800 ORPHA:308 OMIM:617915 OMIM:612199 ORPHA:363611 OMIM:615502 OMIM:604168 ORPHA:48431 ORPHA:212 OMIM:618174 ORPHA:891 OMIM:615075 ORPHA:404473 ORPHA:281 OMIM:219800 ORPHA:411629 ORPHA:351 OMIM:256540 OMIM:610127 OMIM:615362 ORPHA:2073 OMIM:261100 OMIM:619239 OMIM:300354 ORPHA:85293 OMIM:618330 ORPHA:166035 OMIM:250410 ORPHA:453521 OMIM:616127 ORPHA:51636 ORPHA:621 OMIM:250800 OMIM:615453 OMIM:618008 OMIM:619132 OMIM:143880 ORPHA:909 OMIM:213700 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 ORPHA:137675 OMIM:600721 OMIM:615945 ORPHA:363710 ORPHA:857 ORPHA:280333 ORPHA:370997 OMIM:616538 OMIM:613818 OMIM:618910 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:241080 ORPHA:3464 ORPHA:238722 OMIM:617542 ORPHA:2744 OMIM:157600 OMIM:617394 ORPHA:314679 OMIM:601390 OMIM:616459 OMIM:105400 ORPHA:178509 OMIM:168605 ORPHA:2148 OMIM:300067 OMIM:619426 ORPHA:910 OMIM:608643 ORPHA:320380 OMIM:615033 ORPHA:300536 OMIM:613398 OMIM:300958 ORPHA:457260 ORPHA:2919 OMIM:174300 OMIM:618653 OMIM:617171 ORPHA:468620 OMIM:615828 ORPHA:819 OMIM:618404 OMIM:617281 ORPHA:101046 OMIM:604364 ORPHA:98820 OMIM:192430 ORPHA:329314 OMIM:617070 ORPHA:35107 OMIM:270400 ORPHA:818 OMIM:617836 OMIM:618480 OMIM:204750 OMIM:618733 OMIM:617804 OMIM:616632 OMIM:136630 ORPHA:2849 OMIM:305000 ORPHA:79244 OMIM:245348 OMIM:246900 ORPHA:2394 OMIM:300850 OMIM:618793 ORPHA:254534 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:618709 ORPHA:2311 ORPHA:29072 OMIM:183600 ORPHA:98896 OMIM:310200 ORPHA:589821 OMIM:160900 OMIM:618663 OMIM:616113 ORPHA:453533 OMIM:615807 OMIM:127700 OMIM:614881 ORPHA:34516 OMIM:617384 ORPHA:411602 OMIM:610198 ORPHA:811 OMIM:260400 OMIM:616192 ORPHA:445062 OMIM:162350 ORPHA:391411 OMIM:615528 ORPHA:2828 OMIM:616346 ORPHA:98673 ORPHA:330050 OMIM:614388 ORPHA:314404 OMIM:604121 OMIM:614116 OMIM:618724 ORPHA:276621 ORPHA:404443 OMIM:615879 OMIM:242860 OMIM:618292 ORPHA:411986 OMIM:620066 ORPHA:994 ORPHA:91131 OMIM:617604 OMIM:608093 ORPHA:86309 OMIM:618027 OMIM:616901 OMIM:620070 ORPHA:329178 ORPHA:263494 OMIM:616311 ORPHA:293948 OMIM:274270 ORPHA:1675 OMIM:222748 OMIM:619435 OMIM:190300 ORPHA:573 OMIM:270750 OMIM:619847 ORPHA:95716 ORPHA:226316 OMIM:274900 ORPHA:3107 OMIM:180700 ORPHA:239 OMIM:614228 OMIM:614563 OMIM:618492 OMIM:615633 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:731 OMIM:614924 OMIM:617330 OMIM:302960 ORPHA:401973 OMIM:300960 OMIM:247100 OMIM:305100 OMIM:616460 OMIM:619493 OMIM:617561 ORPHA:3447 OMIM:616409 OMIM:616393 OMIM:609306 ORPHA:101112 ORPHA:90349 ORPHA:1520 OMIM:610536 ORPHA:79113 OMIM:611718 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:618878 OMIM:619687 OMIM:618877 ORPHA:1667 OMIM:603896 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:268305 ORPHA:3019 OMIM:194050 OMIM:618527 OMIM:614457 OMIM:133190 ORPHA:1955 OMIM:615957 ORPHA:423296 OMIM:617270 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:620080 OMIM:600348 OMIM:619218 ORPHA:401810 OMIM:615683 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:614257 ORPHA:144 ORPHA:1493 ORPHA:501 OMIM:254780 OMIM:617951 OMIM:243180 ORPHA:90322 OMIM:601675 OMIM:278730 ORPHA:220295 OMIM:610651 ORPHA:90321 OMIM:278760 OMIM:610965 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 OMIM:617180 OMIM:600775 ORPHA:401785 OMIM:615681 ORPHA:209951 ORPHA:280384 OMIM:611225 ORPHA:75857 OMIM:615544 OMIM:216100 ORPHA:2319 ORPHA:3103 OMIM:268300 OMIM:231680 OMIM:602473 ORPHA:51188 OMIM:225500 OMIM:617763 OMIM:614678 OMIM:619576 ORPHA:502 OMIM:616682 ORPHA:466926 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:277590 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:618763 OMIM:300261 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:619338 ORPHA:438178 OMIM:616154 ORPHA:466722 ORPHA:3437 OMIM:617769 OMIM:616006 OMIM:615546 ORPHA:404451 ORPHA:2462 OMIM:608328 ORPHA:348 OMIM:229700 OMIM:606220 OMIM:618089 OMIM:619777 OMIM:615979 OMIM:260300 ORPHA:171695 OMIM:618914 OMIM:620012 OMIM:618324 ORPHA:543470 OMIM:305400 ORPHA:915 OMIM:617166 OMIM:193003 ORPHA:98764 ORPHA:2396 OMIM:147950 OMIM:166250 ORPHA:2645 OMIM:101600 OMIM:190440 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123500 OMIM:609579 ORPHA:168624 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:101400 OMIM:616482 OMIM:610474 ORPHA:429 OMIM:146000 ORPHA:35099 OMIM:602849 ORPHA:85165 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:208441 OMIM:612691 ORPHA:370959 ORPHA:370968 OMIM:236670 OMIM:613153 OMIM:606612 ORPHA:272 OMIM:253800 OMIM:610883 ORPHA:461 ORPHA:2308 ORPHA:851 OMIM:300321 OMIM:305620 ORPHA:1826 OMIM:300049 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:150250 ORPHA:503 ORPHA:320406 OMIM:609033 ORPHA:88628 OMIM:616193 OMIM:300624 ORPHA:908 OMIM:300623 ORPHA:93256 ORPHA:449291 ORPHA:261483 OMIM:619991 OMIM:613068 ORPHA:95713 ORPHA:1226 ORPHA:261144 OMIM:613454 OMIM:274600 ORPHA:705 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:602081 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:606159 ORPHA:157846 OMIM:309549 OMIM:230000 ORPHA:349 OMIM:618005 ORPHA:1136 ORPHA:95 OMIM:229300 ORPHA:308552 OMIM:617904 OMIM:617903 ORPHA:33069 OMIM:615744 OMIM:618559 OMIM:617829 OMIM:617113 OMIM:618396 ORPHA:1945 OMIM:619124 ORPHA:206448 ORPHA:206436 OMIM:245200 ORPHA:206443 OMIM:230350 ORPHA:79237 OMIM:618885 ORPHA:79239 OMIM:230400 OMIM:612736 ORPHA:382 ORPHA:643 OMIM:256850 OMIM:190685 ORPHA:3226 ORPHA:251071 ORPHA:2255 OMIM:615074 ORPHA:363686 OMIM:612718 OMIM:127750 ORPHA:77261 OMIM:608013 OMIM:230900 OMIM:231000 ORPHA:2072 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:206583 OMIM:263570 OMIM:606483 OMIM:231670 ORPHA:25 OMIM:128230 OMIM:233910 OMIM:602485 ORPHA:79299 ORPHA:33574 OMIM:618369 ORPHA:2345 ORPHA:968 OMIM:300849 OMIM:617913 OMIM:619333 OMIM:203450 ORPHA:363717 ORPHA:363722 ORPHA:565624 OMIM:618397 OMIM:231950 ORPHA:633 ORPHA:98897 ORPHA:317 OMIM:164200 ORPHA:2710 OMIM:612474 OMIM:302800 ORPHA:101075 ORPHA:1175 ORPHA:494 ORPHA:320401 OMIM:608804 OMIM:613206 OMIM:307030 ORPHA:324 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:230650 OMIM:611890 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:301076 OMIM:614619 ORPHA:401866 OMIM:616859 OMIM:618412 OMIM:606762 ORPHA:35878 OMIM:220120 ORPHA:941 ORPHA:309246 OMIM:272750 OMIM:616835 OMIM:615510 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:619854 ORPHA:329466 OMIM:615073 OMIM:615473 OMIM:617493 ORPHA:624 OMIM:185300 ORPHA:3205 OMIM:219080 ORPHA:79443 ORPHA:94089 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:252600 ORPHA:576 OMIM:252605 OMIM:252940 ORPHA:2078 OMIM:231070 OMIM:614018 OMIM:618721 OMIM:617810 ORPHA:529665 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:2662 ORPHA:93329 OMIM:613470 OMIM:616939 OMIM:604213 OMIM:616281 ORPHA:477673 ORPHA:96182 ORPHA:99771 ORPHA:99772 OMIM:619931 OMIM:619927 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:617864 ORPHA:363432 OMIM:616204 OMIM:611092 OMIM:619580 ORPHA:208447 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:614706 OMIM:607485 ORPHA:85448 OMIM:266130 OMIM:618646 OMIM:616943 OMIM:616395 OMIM:617988 ORPHA:444013 OMIM:204000 OMIM:617065 ORPHA:584 OMIM:253220 ORPHA:2089 OMIM:617537 ORPHA:2128 ORPHA:231140 OMIM:619720 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:617660 OMIM:616756 ORPHA:464282 OMIM:609975 ORPHA:71212 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:2157 ORPHA:79230 OMIM:610738 ORPHA:98791 OMIM:309541 OMIM:615871 OMIM:618482 OMIM:619521 OMIM:161400 ORPHA:83465 ORPHA:1001 OMIM:600430 OMIM:619797 OMIM:300863 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:137580 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:268800 ORPHA:309169 ORPHA:309162 OMIM:252930 ORPHA:1422 OMIM:600092 ORPHA:88639 OMIM:619983 OMIM:616881 ORPHA:324442 OMIM:616977 OMIM:602390 OMIM:618547 ORPHA:29207 ORPHA:3287 OMIM:123400 OMIM:253270 ORPHA:79242 ORPHA:79276 ORPHA:94063 OMIM:300915 ORPHA:20 OMIM:246450 ORPHA:324575 ORPHA:261265 ORPHA:93111 ORPHA:263455 OMIM:616739 ORPHA:52430 OMIM:615422 OMIM:620083 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:617391 ORPHA:83463 OMIM:614744 OMIM:224500 ORPHA:99657 OMIM:276710 OMIM:619026 ORPHA:79233 OMIM:300322 ORPHA:510 OMIM:218040 ORPHA:3071 ORPHA:2612 OMIM:163200 OMIM:619194 OMIM:301025 ORPHA:85295 ORPHA:391428 OMIM:300438 OMIM:233400 OMIM:612233 ORPHA:800 OMIM:255800 OMIM:600142 OMIM:616779 ORPHA:199354 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:617435 OMIM:309590 ORPHA:85163 OMIM:610532 ORPHA:541423 OMIM:617093 OMIM:615330 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:93473 OMIM:607014 OMIM:614231 OMIM:615846 ORPHA:805 OMIM:613254 ORPHA:98771 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:615996 OMIM:617119 OMIM:619582 ORPHA:52055 OMIM:300472 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 ORPHA:464 OMIM:308300 ORPHA:186 OMIM:618549 OMIM:300143 OMIM:617323 OMIM:213300 OMIM:610156 ORPHA:75858 ORPHA:559 OMIM:617404 OMIM:609968 ORPHA:263458 ORPHA:508 ORPHA:769 OMIM:618571 OMIM:618572 OMIM:617926 OMIM:619472 OMIM:618687 OMIM:309530 ORPHA:217377 ORPHA:397933 ORPHA:93552 OMIM:618451 OMIM:618088 OMIM:119500 OMIM:611174 OMIM:616370 OMIM:613204 OMIM:176500 OMIM:117300 ORPHA:1065 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:208513 OMIM:243500 OMIM:274800 OMIM:118450 OMIM:619566 ORPHA:71493 OMIM:618824 ORPHA:98934 OMIM:606438 OMIM:612900 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619196 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:618974 ORPHA:89844 ORPHA:37612 OMIM:160120 ORPHA:972 OMIM:616366 OMIM:618284 OMIM:616056 OMIM:616187 OMIM:619913 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 ORPHA:90647 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:276580 ORPHA:79644 OMIM:614098 ORPHA:435628 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:617643 ORPHA:79137 OMIM:618729 OMIM:619725 OMIM:618658 OMIM:613720 ORPHA:439218 OMIM:617601 OMIM:615005 OMIM:616398 OMIM:611726 ORPHA:263516 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:147920 OMIM:300867 OMIM:618505 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:611302 OMIM:300923 ORPHA:100991 OMIM:615282 OMIM:200990 ORPHA:166024 ORPHA:66629 OMIM:609460 ORPHA:2884 OMIM:609541 OMIM:300982 ORPHA:319182 OMIM:605130 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:617768 OMIM:618512 OMIM:617788 OMIM:604321 ORPHA:221139 ORPHA:397612 OMIM:615637 OMIM:215600 ORPHA:496689 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:615191 OMIM:300257 ORPHA:34587 OMIM:613154 OMIM:608840 ORPHA:319671 OMIM:615071 OMIM:615300 OMIM:309585 OMIM:169400 OMIM:245450 OMIM:620089 OMIM:620007 OMIM:221750 OMIM:619780 ORPHA:298 ORPHA:235 OMIM:606593 ORPHA:99812 OMIM:618103 OMIM:614340 OMIM:617668 OMIM:617863 OMIM:616887 ORPHA:2378 ORPHA:79284 OMIM:277380 OMIM:619694 OMIM:212112 ORPHA:99027 OMIM:169500 OMIM:619179 ORPHA:79087 OMIM:619180 ORPHA:495818 OMIM:618090 OMIM:600373 ORPHA:79243 OMIM:164310 ORPHA:2143 ORPHA:2788 OMIM:259770 ORPHA:70472 OMIM:220111 OMIM:619074 OMIM:615198 OMIM:607060 OMIM:618840 OMIM:615838 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:615994 OMIM:605275 OMIM:615877 OMIM:618325 OMIM:619004 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:459056 OMIM:616680 ORPHA:398069 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 ORPHA:3057 OMIM:618918 OMIM:615279 OMIM:617137 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616734 ORPHA:240071 OMIM:600274 OMIM:172700 ORPHA:240103 ORPHA:240085 ORPHA:240112 ORPHA:240094 OMIM:260540 OMIM:601104 ORPHA:401835 OMIM:619692 ORPHA:314603 OMIM:611390 OMIM:257920 OMIM:618273 OMIM:250850 OMIM:606070 ORPHA:600 ORPHA:228402 OMIM:156200 OMIM:617188 ORPHA:85284 ORPHA:2273 OMIM:308205 ORPHA:361 OMIM:202200 OMIM:210200 OMIM:210210 OMIM:618124 OMIM:252650 ORPHA:578 OMIM:251200 ORPHA:1596 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:614249 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 ORPHA:65759 ORPHA:261190 OMIM:600987 ORPHA:97279 OMIM:618644 OMIM:615942 OMIM:618665 OMIM:617086 ORPHA:99947 OMIM:609260 OMIM:616486 OMIM:610951 OMIM:212066 OMIM:615084 ORPHA:352447 OMIM:245150 ORPHA:85202 OMIM:619269 ORPHA:67047 OMIM:618329 OMIM:615673 ORPHA:2745 OMIM:300000 OMIM:300928 ORPHA:284339 OMIM:619527 ORPHA:391646 OMIM:605231 ORPHA:2473 OMIM:615990 OMIM:617121 OMIM:249000 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 ORPHA:79283 OMIM:277410 OMIM:617018 ORPHA:497764 ORPHA:371428 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:618774 OMIM:252150 OMIM:614250 ORPHA:466768 OMIM:619090 OMIM:609180 ORPHA:79323 OMIM:615219 OMIM:234050 OMIM:618499 ORPHA:251347 OMIM:604391 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:617950 OMIM:617664 OMIM:301032 OMIM:616834 ORPHA:502423 OMIM:617675 OMIM:614947 OMIM:618248 OMIM:617780 ORPHA:395 OMIM:618367 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:14 OMIM:610377 ORPHA:29 OMIM:164280 ORPHA:391641 ORPHA:33226 OMIM:193700 ORPHA:2053 ORPHA:437572 ORPHA:1358 ORPHA:79476 OMIM:214450 ORPHA:33445 OMIM:618198 OMIM:618317 ORPHA:98911 OMIM:618280 OMIM:618113 ORPHA:508542 OMIM:616521 ORPHA:276432 OMIM:617787 OMIM:619717 ORPHA:2126 OMIM:617393 ORPHA:500545 ORPHA:79279 ORPHA:79280 ORPHA:79281 OMIM:609242 OMIM:609241 OMIM:252920 ORPHA:927 OMIM:237310 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:610442 OMIM:620033 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:618321 OMIM:617186 OMIM:616483 OMIM:619157 ORPHA:647 OMIM:251260 OMIM:617983 OMIM:618460 OMIM:617985 OMIM:619373 ORPHA:551 ORPHA:2177 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:310600 OMIM:616116 OMIM:618249 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618247 ORPHA:70474 OMIM:618238 OMIM:618239 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618232 OMIM:618224 OMIM:618222 OMIM:618225 OMIM:256030 ORPHA:3253 OMIM:617201 ORPHA:101085 OMIM:617892 OMIM:263520 OMIM:619099 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:139474 ORPHA:363700 OMIM:162200 OMIM:601321 ORPHA:637 OMIM:618356 OMIM:617744 ORPHA:401986 OMIM:613735 ORPHA:447980 ORPHA:420179 ORPHA:561 OMIM:602535 OMIM:614753 ORPHA:293978 OMIM:619386 OMIM:605711 ORPHA:64752 OMIM:608654 ORPHA:404454 OMIM:615273 OMIM:224230 OMIM:613987 ORPHA:627 OMIM:302350 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:122470 ORPHA:209905 OMIM:118700 OMIM:610978 OMIM:225250 ORPHA:95712 ORPHA:527497 OMIM:617560 OMIM:300425 OMIM:300495 ORPHA:1451 OMIM:614736 ORPHA:466791 OMIM:300967 OMIM:614153 ORPHA:276198 ORPHA:2289 OMIM:603472 OMIM:619473 OMIM:125310 ORPHA:136 OMIM:618859 OMIM:257220 OMIM:607625 OMIM:609583 ORPHA:220497 OMIM:266900 ORPHA:1344 OMIM:615722 ORPHA:401777 OMIM:619911 OMIM:249400 OMIM:613224 OMIM:619833 OMIM:614325 ORPHA:228415 OMIM:117550 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:308050 OMIM:619340 OMIM:620001 OMIM:611091 ORPHA:320396 OMIM:613162 OMIM:618718 ORPHA:642 OMIM:256800 OMIM:617830 OMIM:613886 OMIM:618242 OMIM:619844 OMIM:618348 OMIM:616730 OMIM:271930 OMIM:617831 OMIM:618637 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 OMIM:300997 OMIM:210000 OMIM:258501 OMIM:300486 ORPHA:137831 OMIM:613435 ORPHA:3204 OMIM:224690 OMIM:613803 OMIM:617729 OMIM:311250 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:618493 OMIM:164300 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:607432 ORPHA:95232 ORPHA:79254 ORPHA:2209 OMIM:618158 OMIM:618458 OMIM:300558 ORPHA:216873 ORPHA:216866 OMIM:607236 OMIM:234200 OMIM:618437 OMIM:615560 OMIM:120330 ORPHA:97362 ORPHA:896 OMIM:148820 OMIM:194072 OMIM:218700 ORPHA:95720 OMIM:617641 OMIM:266150 OMIM:606054 ORPHA:35 OMIM:251280 OMIM:300088 ORPHA:101039 OMIM:619880 OMIM:618371 OMIM:615919 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:618770 OMIM:620047 OMIM:616921 ORPHA:494526 OMIM:616922 OMIM:610475 ORPHA:189439 OMIM:619150 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:615665 ORPHA:228169 OMIM:609161 OMIM:213600 OMIM:615483 OMIM:615007 OMIM:616592 OMIM:312170 OMIM:245349 ORPHA:255182 OMIM:608782 OMIM:614651 OMIM:610245 ORPHA:101108 OMIM:620021 ORPHA:742 ORPHA:3220 OMIM:214100 OMIM:601539 ORPHA:912 ORPHA:247815 OMIM:614871 OMIM:614920 OMIM:266510 OMIM:614877 OMIM:614866 OMIM:614867 OMIM:214110 OMIM:202370 OMIM:616716 ORPHA:95433 OMIM:614863 OMIM:614879 ORPHA:773 OMIM:215100 OMIM:614808 ORPHA:401820 OMIM:615802 OMIM:614207 ORPHA:247262 OMIM:615716 ORPHA:713 OMIM:300653 OMIM:615816 ORPHA:443811 OMIM:618298 OMIM:618725 ORPHA:127 OMIM:301900 OMIM:300263 ORPHA:85287 OMIM:601815 OMIM:617991 ORPHA:589905 ORPHA:264580 ORPHA:79240 OMIM:619708 OMIM:619621 OMIM:617767 OMIM:619827 OMIM:114300 OMIM:617146 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:301072 ORPHA:447 OMIM:617816 OMIM:619356 ORPHA:488635 OMIM:616917 OMIM:618010 ORPHA:3474 OMIM:280000 OMIM:610293 ORPHA:2059 OMIM:614080 OMIM:614749 OMIM:617599 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:616025 ORPHA:557003 OMIM:615108 ORPHA:60040 OMIM:602501 OMIM:269880 ORPHA:3163 OMIM:603387 OMIM:615217 ORPHA:64753 OMIM:605909 OMIM:618889 OMIM:619405 OMIM:610623 ORPHA:199351 ORPHA:35069 OMIM:256600 OMIM:610217 OMIM:612953 OMIM:617527 ORPHA:521426 OMIM:617770 ORPHA:257 OMIM:616763 ORPHA:98765 ORPHA:2518 OMIM:616171 ORPHA:280234 OMIM:312080 ORPHA:280229 ORPHA:280219 ORPHA:280210 ORPHA:280224 OMIM:312920 ORPHA:99015 OMIM:617290 OMIM:212065 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:617954 ORPHA:98810 OMIM:118800 OMIM:616267 ORPHA:459033 OMIM:613402 OMIM:613179 ORPHA:760 ORPHA:98908 ORPHA:565612 OMIM:215470 ORPHA:1173 OMIM:245800 ORPHA:2377 OMIM:275400 OMIM:251950 ORPHA:319514 OMIM:614932 OMIM:608703 ORPHA:101111 OMIM:616364 ORPHA:468678 OMIM:301220 OMIM:301030 ORPHA:163976 ORPHA:726 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:203700 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 ORPHA:70595 ORPHA:861 OMIM:616494 OMIM:613717 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:619742 OMIM:614381 OMIM:619234 OMIM:619310 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:618135 OMIM:615249 OMIM:616094 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 ORPHA:206559 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:613038 OMIM:618604 ORPHA:1435 OMIM:619352 OMIM:620024 OMIM:619301 OMIM:617450 ORPHA:79473 ORPHA:2701 OMIM:617506 OMIM:616817 ORPHA:391408 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 OMIM:604326 ORPHA:98762 ORPHA:457279 OMIM:616355 OMIM:618265 OMIM:617711 OMIM:256730 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 OMIM:616488 OMIM:619761 ORPHA:324290 OMIM:616640 OMIM:619862 ORPHA:540 OMIM:603553 OMIM:612437 OMIM:101800 OMIM:610489 OMIM:619680 ORPHA:412066 OMIM:605361 ORPHA:98763 OMIM:617364 ORPHA:210571 OMIM:612067 OMIM:617157 ORPHA:464288 ORPHA:280397 OMIM:600072 OMIM:137440 ORPHA:356 OMIM:603218 ORPHA:157941 ORPHA:282166 OMIM:245300 OMIM:606688 OMIM:239500 OMIM:619737 OMIM:301835 ORPHA:1187 OMIM:300661 ORPHA:411543 ORPHA:99014 ORPHA:423479 OMIM:619539 ORPHA:98811 OMIM:249500 OMIM:617481 ORPHA:544469 OMIM:611722 OMIM:249900 OMIM:613697 OMIM:620038 OMIM:256040 OMIM:620071 OMIM:617516 OMIM:619183 ORPHA:79350 OMIM:614023 OMIM:109400 ORPHA:377 ORPHA:77301 OMIM:300830 OMIM:151050 ORPHA:2658 ORPHA:109 OMIM:158350 OMIM:605309 ORPHA:2969 OMIM:151100 ORPHA:456312 OMIM:616263 ORPHA:13 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:617931 OMIM:616158 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:614438 OMIM:616420 ORPHA:481152 ORPHA:226 OMIM:261630 OMIM:617982 OMIM:617807 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:607624 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:613078 OMIM:617244 OMIM:611553 ORPHA:1713 ORPHA:477817 OMIM:182290 OMIM:619311 OMIM:618797 OMIM:608033 ORPHA:88619 ORPHA:2470 OMIM:615524 OMIM:616140 ORPHA:438114 OMIM:611523 ORPHA:1587 OMIM:251255 ORPHA:2886 OMIM:617629 OMIM:612079 ORPHA:157954 OMIM:274000 OMIM:300238 OMIM:614814 OMIM:617175 ORPHA:436245 OMIM:218600 OMIM:268400 ORPHA:101011 OMIM:610250 ORPHA:401849 OMIM:617916 OMIM:616975 ORPHA:494344 ORPHA:504476 OMIM:614575 OMIM:612015 OMIM:618004 OMIM:618761 OMIM:619790 OMIM:618970 ORPHA:217335 ORPHA:1234 OMIM:615355 OMIM:300978 OMIM:614922 OMIM:607095 ORPHA:175 ORPHA:329336 OMIM:616479 OMIM:612951 OMIM:300953 OMIM:616260 OMIM:618379 ORPHA:544503 ORPHA:137634 OMIM:619686 OMIM:619460 OMIM:212840 OMIM:619688 ORPHA:512260 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:619487 ORPHA:1946 OMIM:226750 OMIM:268310 OMIM:618060 OMIM:618357 OMIM:204100 OMIM:619113 OMIM:611560 OMIM:608611 OMIM:300998 ORPHA:459070 OMIM:105650 OMIM:303600 ORPHA:192 OMIM:300844 OMIM:612075 OMIM:613077 OMIM:268315 OMIM:619453 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:616732 ORPHA:468631 OMIM:614833 ORPHA:404499 OMIM:615705 OMIM:617773 ORPHA:324581 ORPHA:466650 ORPHA:98 OMIM:270550 OMIM:107480 OMIM:601068 OMIM:159550 ORPHA:2585 OMIM:619806 OMIM:246700 ORPHA:3129 OMIM:617709 OMIM:616402 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 ORPHA:99956 OMIM:607330 OMIM:618195 OMIM:254900 OMIM:619317 OMIM:607208 OMIM:617935 OMIM:617938 ORPHA:99735 OMIM:614306 OMIM:614558 OMIM:620107 ORPHA:521411 OMIM:604377 OMIM:619184 ORPHA:466794 OMIM:616719 OMIM:615993 OMIM:613615 ORPHA:3208 OMIM:252011 OMIM:619224 ORPHA:50814 OMIM:618651 OMIM:617056 ORPHA:171706 ORPHA:506353 OMIM:618768 OMIM:618876 OMIM:613811 ORPHA:2901 OMIM:614739 OMIM:604218 OMIM:618106 ORPHA:436151 OMIM:616078 OMIM:269150 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:606002 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:615578 ORPHA:119 OMIM:617575 OMIM:252900 ORPHA:261222 ORPHA:261197 ORPHA:329249 ORPHA:99949 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:182212 ORPHA:84064 OMIM:222470 OMIM:601678 OMIM:619083 OMIM:619080 OMIM:616645 OMIM:218000 ORPHA:1496 OMIM:618384 OMIM:616095 ORPHA:59 OMIM:300523 OMIM:604369 ORPHA:352649 OMIM:618049 ORPHA:49827 ORPHA:263410 OMIM:607483 OMIM:222730 OMIM:617105 OMIM:612656 OMIM:616657 ORPHA:447997 OMIM:212140 ORPHA:158 OMIM:612949 ORPHA:247585 OMIM:603471 OMIM:238970 ORPHA:415 OMIM:613710 ORPHA:159 OMIM:212138 ORPHA:2095 OMIM:615418 OMIM:618416 OMIM:616505 ORPHA:1782 ORPHA:168569 ORPHA:71277 OMIM:601042 OMIM:614847 OMIM:606777 ORPHA:168577 ORPHA:53583 OMIM:608885 OMIM:208050 ORPHA:3342 ORPHA:309854 OMIM:613280 OMIM:617595 OMIM:614482 OMIM:603585 OMIM:300896 ORPHA:356961 OMIM:615553 ORPHA:370943 OMIM:266265 ORPHA:99843 OMIM:242600 ORPHA:79259 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:201100 OMIM:616721 ORPHA:468699 OMIM:618868 OMIM:617532 OMIM:229050 OMIM:611590 OMIM:604278 OMIM:615026 OMIM:274400 OMIM:617143 OMIM:616421 OMIM:616269 ORPHA:457212 ORPHA:238455 OMIM:300352 ORPHA:52503 OMIM:619191 ORPHA:470 OMIM:222700 OMIM:616291 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:221200 ORPHA:2588 OMIM:139210 OMIM:617439 OMIM:619293 ORPHA:2728 OMIM:601358 ORPHA:3051 OMIM:614609 ORPHA:1830 ORPHA:99966 OMIM:614608 OMIM:618362 OMIM:618779 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:603457 OMIM:619995 ORPHA:1553 OMIM:241800 OMIM:206920 ORPHA:1106 ORPHA:77293 OMIM:257200 OMIM:309583 ORPHA:3063 OMIM:616330 ORPHA:66631 OMIM:609528 OMIM:168601 OMIM:605543 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 ORPHA:1513 OMIM:269500 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:615866 ORPHA:77298 OMIM:300123 ORPHA:67045 OMIM:618506 ORPHA:313892 OMIM:616803 OMIM:618971 OMIM:616507 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:619312 OMIM:602099 ORPHA:2822 OMIM:616668 OMIM:604360 ORPHA:101001 OMIM:248900 ORPHA:35689 OMIM:607259 ORPHA:99013 ORPHA:634 OMIM:618828 OMIM:618829 ORPHA:70594 OMIM:612716 ORPHA:137605 OMIM:619745 OMIM:613477 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:617519 OMIM:619221 OMIM:616437 OMIM:617145 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:612379 OMIM:612713 ORPHA:324737 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:607876 OMIM:301013 OMIM:612703 OMIM:601186 OMIM:611087 ORPHA:500533 OMIM:308100 ORPHA:281090 OMIM:615596 OMIM:619714 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:412057 OMIM:618093 OMIM:615768 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:300115 ORPHA:88644 ORPHA:319332 OMIM:610743 OMIM:612621 ORPHA:544254 OMIM:617389 OMIM:615530 OMIM:300802 ORPHA:522077 ORPHA:284271 OMIM:614229 OMIM:619461 ORPHA:228410 OMIM:614839 OMIM:619052 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:617126 OMIM:619972 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:612069 OMIM:276600 ORPHA:28378 OMIM:615663 OMIM:617695 OMIM:220500 OMIM:608105 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:617900 OMIM:616439 ORPHA:1930 OMIM:616944 OMIM:602342 ORPHA:487825 OMIM:607136 ORPHA:98759 ORPHA:1617 OMIM:606053 ORPHA:1727 OMIM:188400 ORPHA:261279 ORPHA:1802 OMIM:619718 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:275350 OMIM:154500 OMIM:616654 OMIM:614815 ORPHA:2753 ORPHA:94124 OMIM:607250 ORPHA:404493 OMIM:616949 ORPHA:320385 OMIM:615031 OMIM:614020 ORPHA:488642 OMIM:616954 OMIM:615145 OMIM:617952 OMIM:618798 ORPHA:1297 OMIM:113620 OMIM:169100 OMIM:301066 OMIM:274700 ORPHA:1328 OMIM:609192 OMIM:610168 OMIM:613908 ORPHA:276193 ORPHA:101150 OMIM:605407 OMIM:602629 ORPHA:98806 OMIM:618800 OMIM:300957 ORPHA:457240 OMIM:613680 ORPHA:363444 OMIM:614450 OMIM:188570 OMIM:619989 OMIM:619133 OMIM:619908 ORPHA:505216 OMIM:617698 ORPHA:52368 OMIM:304700 OMIM:618251 OMIM:613990 OMIM:268130 OMIM:609560 ORPHA:254875 OMIM:617069 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:613002 OMIM:615432 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617562 OMIM:617563 OMIM:614465 OMIM:620075 OMIM:608091 OMIM:619562 OMIM:619470 OMIM:614970 ORPHA:2752 OMIM:614424 OMIM:607454 ORPHA:98773 OMIM:619966 OMIM:216360 OMIM:610688 ORPHA:1194 OMIM:618316 OMIM:300872 ORPHA:209981 OMIM:617255 OMIM:618730 OMIM:617028 OMIM:619556 OMIM:619653 OMIM:619243 OMIM:614969 OMIM:619185 ORPHA:93357 OMIM:271510 OMIM:618098 OMIM:618947 OMIM:128100 ORPHA:2807 OMIM:617730 OMIM:604292 ORPHA:1896 OMIM:614458 OMIM:204500 ORPHA:284324 OMIM:609270 OMIM:617731 OMIM:613307 OMIM:618164 OMIM:620027 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:618351 OMIM:618331 OMIM:618741 OMIM:617862 ORPHA:352530 OMIM:613192 ORPHA:2770 OMIM:618193 OMIM:225750 ORPHA:247691 OMIM:192315 OMIM:275120 OMIM:618573 ORPHA:99832 OMIM:253250 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 ORPHA:486815 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:616539 ORPHA:2596 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:105500 OMIM:618188 OMIM:618454 ORPHA:538 OMIM:191100 OMIM:617026 OMIM:610505 OMIM:275100 ORPHA:90674 OMIM:609152 ORPHA:90673 OMIM:300210 OMIM:604432 ORPHA:98767 OMIM:615157 OMIM:619534 OMIM:619244 OMIM:615985 OMIM:615541 ORPHA:391307 ORPHA:96 OMIM:277460 OMIM:105210 OMIM:611603 ORPHA:467166 OMIM:616208 ORPHA:250972 OMIM:615771 OMIM:156610 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:128101 OMIM:612438 ORPHA:98805 OMIM:251270 OMIM:611093 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:271245 OMIM:609286 OMIM:221770 ORPHA:1145 OMIM:619959 OMIM:617132 OMIM:617133 OMIM:618418 OMIM:300860 ORPHA:163956 ORPHA:238446 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:2707 OMIM:619639 OMIM:300857 OMIM:243800 ORPHA:2315 OMIM:619189 ORPHA:500180 OMIM:617672 ORPHA:276556 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618744 ORPHA:79234 OMIM:616801 OMIM:613161 OMIM:300676 OMIM:615824 OMIM:615159 OMIM:276880 ORPHA:210128 OMIM:617397 OMIM:300984 ORPHA:500055 OMIM:616863 ORPHA:401795 OMIM:300968 OMIM:300919 ORPHA:480880 OMIM:617054 ORPHA:251282 OMIM:618323 OMIM:108600 OMIM:618760 OMIM:608627 OMIM:617802 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:167320 OMIM:224050 OMIM:619637 OMIM:616683 ORPHA:466934 OMIM:200150 ORPHA:2388 OMIM:216550 ORPHA:193 OMIM:616840 ORPHA:95434 OMIM:607317 OMIM:619291 ORPHA:505248 OMIM:617303 OMIM:619135 ORPHA:319199 OMIM:614898 OMIM:619389 OMIM:619273 OMIM:615851 OMIM:607596 OMIM:616948 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618707 OMIM:615817 OMIM:617520 ORPHA:513456 OMIM:617616 OMIM:618652 OMIM:618347 OMIM:618346 ORPHA:329284 OMIM:300894 OMIM:617977 ORPHA:401800 OMIM:604317 ORPHA:83472 OMIM:251300 OMIM:610185 OMIM:222300 ORPHA:411590 OMIM:618453 OMIM:619648 ORPHA:284282 OMIM:614322 OMIM:300842 OMIM:278700 OMIM:613159 OMIM:616413 OMIM:617633 OMIM:616541 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:120433 ORPHA:1473 OMIM:619418 OMIM:619125 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:618736 OMIM:609637 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:618425 OMIM:617260 OMIM:619188 OMIM:619557 OMIM:618619 OMIM:619488 OMIM:300803 OMIM:260565 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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