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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Neurodevelopmental delay (HP:0012758)

..Starting node
..Global developmental delay (HP:0001263)

Term ID:

1263

Name:

Global developmental delay

Synonym:

Cognitive delay; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Mental and motor retardation; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development

Definition:

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Comments:

Reference:

HP:0001263

Genes and Diseases:

Child Nodes:

........

Mild global developmental delay (HP:0011342)

........

Moderate global developmental delay (HP:0011343)

........

Severe global developmental delay (HP:0011344)

........

Profound global developmental delay (HP:0012736)

Sister Nodes:

Delayed social development (HP:0012434)

Delayed speech and language development (HP:0000750)

Motor delay (HP:0001270)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001263	HP:0001263	Global developmental delay	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0001263	HP:0001263	Global developmental delay	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001263	HP:0001263	Global developmental delay	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001263	HP:0001263	Global developmental delay	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0001263	HP:0001263	Global developmental delay	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0001263	HP:0001263	Global developmental delay	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:0001263	HP:0001263	Global developmental delay	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040282 - Frequent	35
HP:0001263	HP:0001263	Global developmental delay	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0001263	HP:0001263	Global developmental delay	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0001263	HP:0001263	Global developmental delay	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001263	HP:0001263	Global developmental delay	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001263	HP:0001263	Global developmental delay	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare	51
HP:0001263	HP:0001263	Global developmental delay	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0001263	HP:0001263	Global developmental delay	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0001263	HP:0001263	Global developmental delay	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0001263	HP:0001263	Global developmental delay	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0001263	HP:0001263	Global developmental delay	0	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency	.
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	11
HP:0001263	HP:0001263	Global developmental delay	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0001263	HP:0001263	Global developmental delay	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent	120
HP:0001263	HP:0001263	Global developmental delay	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0001263	HP:0001263	Global developmental delay	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0001263	HP:0001263	Global developmental delay	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0001263	HP:0001263	Global developmental delay	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001263	HP:0001263	Global developmental delay	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0001263	HP:0001263	Global developmental delay	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.	68
HP:0001263	HP:0001263	Global developmental delay	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional	96
HP:0001263	HP:0001263	Global developmental delay	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0001263	HP:0001263	Global developmental delay	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0001263	HP:0001263	Global developmental delay	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0001263	HP:0001263	Global developmental delay	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0001263	HP:0001263	Global developmental delay	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0001263	HP:0001263	Global developmental delay	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0001263	HP:0001263	Global developmental delay	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0001263	HP:0001263	Global developmental delay	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	116
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	.	116
HP:0001263	HP:0001263	Global developmental delay	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0001263	HP:0001263	Global developmental delay	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent	9
HP:0001263	HP:0001263	Global developmental delay	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001263	HP:0001263	Global developmental delay	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0001263	HP:0001263	Global developmental delay	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0001263	HP:0001263	Global developmental delay	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0001263	HP:0001263	Global developmental delay	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001263	HP:0001263	Global developmental delay	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0001263	HP:0001263	Global developmental delay	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0001263	HP:0001263	Global developmental delay	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent	47
HP:0001263	HP:0001263	Global developmental delay	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0001263	HP:0001263	Global developmental delay	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0001263	HP:0001263	Global developmental delay	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0001263	HP:0001263	Global developmental delay	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0001263	HP:0001263	Global developmental delay	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0001263	HP:0001263	Global developmental delay	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0001263	HP:0001263	Global developmental delay	0	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:0001263	HP:0001263	Global developmental delay	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0001263	HP:0001263	Global developmental delay	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0001263	HP:0001263	Global developmental delay	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001263	HP:0001263	Global developmental delay	0	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:0001263	HP:0001263	Global developmental delay	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0001263	HP:0001263	Global developmental delay	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0001263	HP:0001263	Global developmental delay	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0001263	HP:0001263	Global developmental delay	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0001263	HP:0001263	Global developmental delay	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0001263	HP:0001263	Global developmental delay	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional	114
HP:0001263	HP:0001263	Global developmental delay	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0001263	HP:0001263	Global developmental delay	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly		19
HP:0001263	HP:0001263	Global developmental delay	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0001263	HP:0001263	Global developmental delay	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent	89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0001263	HP:0001263	Global developmental delay	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent	74
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040281 - Very frequent	108
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0001263	HP:0001263	Global developmental delay	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.	227
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040281 - Very frequent	58
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0001263	HP:0001263	Global developmental delay	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent	41
HP:0001263	HP:0001263	Global developmental delay	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0001263	HP:0001263	Global developmental delay	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001263	HP:0001263	Global developmental delay	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001263	HP:0001263	Global developmental delay	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0001263	HP:0001263	Global developmental delay	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0001263	HP:0001263	Global developmental delay	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0001263	HP:0001263	Global developmental delay	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.	46
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040281 - Very frequent	37
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0001263	HP:0001263	Global developmental delay	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001263	HP:0001263	Global developmental delay	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001263	HP:0001263	Global developmental delay	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040281 - Very frequent	93
HP:0001263	HP:0001263	Global developmental delay	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0001263	HP:0001263	Global developmental delay	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0001263	HP:0001263	Global developmental delay	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0001263	HP:0001263	Global developmental delay	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0001263	HP:0001263	Global developmental delay	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0001263	HP:0001263	Global developmental delay	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001263	HP:0001263	Global developmental delay	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0001263	HP:0001263	Global developmental delay	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0001263	HP:0001263	Global developmental delay	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0001263	HP:0001263	Global developmental delay	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0001263	HP:0001263	Global developmental delay	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0001263	HP:0001263	Global developmental delay	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001263	HP:0001263	Global developmental delay	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040281 - Very frequent	150
HP:0001263	HP:0001263	Global developmental delay	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37		176
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0001263	HP:0001263	Global developmental delay	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001263	HP:0001263	Global developmental delay	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001263	HP:0001263	Global developmental delay	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001263	HP:0001263	Global developmental delay	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent	13
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0001263	HP:0001263	Global developmental delay	0	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:0001263	HP:0001263	Global developmental delay	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0001263	HP:0001263	Global developmental delay	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0001263	HP:0001263	Global developmental delay	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0001263	HP:0001263	Global developmental delay	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent	74
HP:0001263	HP:0001263	Global developmental delay	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare	75
HP:0001263	HP:0001263	Global developmental delay	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0001263	HP:0001263	Global developmental delay	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0001263	HP:0001263	Global developmental delay	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0001263	HP:0001263	Global developmental delay	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040281 - Very frequent	31
HP:0001263	HP:0001263	Global developmental delay	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001263	HP:0001263	Global developmental delay	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent	219
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001263	HP:0001263	Global developmental delay	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0001263	HP:0001263	Global developmental delay	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0001263	HP:0001263	Global developmental delay	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0001263	HP:0001263	Global developmental delay	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0001263	HP:0001263	Global developmental delay	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001263	HP:0001263	Global developmental delay	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent	166
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent	166
HP:0001263	HP:0001263	Global developmental delay	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0001263	HP:0001263	Global developmental delay	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001263	HP:0001263	Global developmental delay	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0001263	HP:0001263	Global developmental delay	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0001263	HP:0001263	Global developmental delay	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease		48
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent	48
HP:0001263	HP:0001263	Global developmental delay	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0001263	HP:0001263	Global developmental delay	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001263	HP:0001263	Global developmental delay	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0001263	HP:0001263	Global developmental delay	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent	49
HP:0001263	HP:0001263	Global developmental delay	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001263	HP:0001263	Global developmental delay	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040281 - Very frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0001263	HP:0001263	Global developmental delay	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0001263	HP:0001263	Global developmental delay	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0001263	HP:0001263	Global developmental delay	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	239
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	150
HP:0001263	HP:0001263	Global developmental delay	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001263	HP:0001263	Global developmental delay	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001263	HP:0001263	Global developmental delay	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001263	HP:0001263	Global developmental delay	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0001263	HP:0001263	Global developmental delay	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001263	HP:0001263	Global developmental delay	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001263	HP:0001263	Global developmental delay	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0001263	HP:0001263	Global developmental delay	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.	32
HP:0001263	HP:0001263	Global developmental delay	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:0001263	HP:0001263	Global developmental delay	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:0001263	HP:0001263	Global developmental delay	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0001263	HP:0001263	Global developmental delay	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001263	HP:0001263	Global developmental delay	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0001263	HP:0001263	Global developmental delay	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040282 - Frequent	49
HP:0001263	HP:0001263	Global developmental delay	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0001263	HP:0001263	Global developmental delay	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0001263	HP:0001263	Global developmental delay	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0001263	HP:0001263	Global developmental delay	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare	67
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0001263	HP:0001263	Global developmental delay	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	HP:0040283 - Occasional	38
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.	28
HP:0001263	HP:0001263	Global developmental delay	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0001263	HP:0001263	Global developmental delay	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0001263	HP:0001263	Global developmental delay	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0001263	HP:0001263	Global developmental delay	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0001263	HP:0001263	Global developmental delay	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0001263	HP:0001263	Global developmental delay	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0001263	HP:0001263	Global developmental delay	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0001263	HP:0001263	Global developmental delay	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0001263	HP:0001263	Global developmental delay	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0001263	HP:0001263	Global developmental delay	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0001263	HP:0001263	Global developmental delay	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001263	HP:0001263	Global developmental delay	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001263	HP:0001263	Global developmental delay	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0001263	HP:0001263	Global developmental delay	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040281 - Very frequent	13
HP:0001263	HP:0001263	Global developmental delay	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent	38
HP:0001263	HP:0001263	Global developmental delay	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0001263	HP:0001263	Global developmental delay	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001263	HP:0001263	Global developmental delay	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0001263	HP:0001263	Global developmental delay	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	276
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0001263	HP:0001263	Global developmental delay	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0001263	HP:0001263	Global developmental delay	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	5769
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0001263	HP:0001263	Global developmental delay	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	7642
HP:0001263	HP:0001263	Global developmental delay	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0001263	HP:0001263	Global developmental delay	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1086
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001263	HP:0001263	Global developmental delay	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0001263	HP:0001263	Global developmental delay	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0001263	HP:0001263	Global developmental delay	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent	76
HP:0001263	HP:0001263	Global developmental delay	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0001263	HP:0001263	Global developmental delay	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0001263	HP:0001263	Global developmental delay	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0001263	HP:0001263	Global developmental delay	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001263	HP:0001263	Global developmental delay	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0001263	HP:0001263	Global developmental delay	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	HP:0040283 - Occasional	114
HP:0001263	HP:0001263	Global developmental delay	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001263	HP:0001263	Global developmental delay	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001263	HP:0001263	Global developmental delay	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001263	HP:0001263	Global developmental delay	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent	29
HP:0001263	HP:0001263	Global developmental delay	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	HP:0040283 - Occasional	10
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	449
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0001263	HP:0001263	Global developmental delay	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	59
HP:0001263	HP:0001263	Global developmental delay	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0001263	HP:0001263	Global developmental delay	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040281 - Very frequent	34
HP:0001263	HP:0001263	Global developmental delay	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001263	HP:0001263	Global developmental delay	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0001263	HP:0001263	Global developmental delay	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent	118
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type		118
HP:0001263	HP:0001263	Global developmental delay	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0001263	HP:0001263	Global developmental delay	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0001263	HP:0001263	Global developmental delay	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001263	HP:0001263	Global developmental delay	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001263	HP:0001263	Global developmental delay	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0001263	HP:0001263	Global developmental delay	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001263	HP:0001263	Global developmental delay	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0001263	HP:0001263	Global developmental delay	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0001263	HP:0001263	Global developmental delay	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001263	HP:0001263	Global developmental delay	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0001263	HP:0001263	Global developmental delay	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0001263	HP:0001263	Global developmental delay	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0001263	HP:0001263	Global developmental delay	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0001263	HP:0001263	Global developmental delay	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0001263	HP:0001263	Global developmental delay	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0001263	HP:0001263	Global developmental delay	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001263	HP:0001263	Global developmental delay	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0001263	HP:0001263	Global developmental delay	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0001263	HP:0001263	Global developmental delay	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0001263	HP:0001263	Global developmental delay	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001263	HP:0001263	Global developmental delay	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0001263	HP:0001263	Global developmental delay	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0001263	HP:0001263	Global developmental delay	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0001263	HP:0001263	Global developmental delay	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0001263	HP:0001263	Global developmental delay	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0001263	HP:0001263	Global developmental delay	0	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0001263	HP:0001263	Global developmental delay	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001263	HP:0001263	Global developmental delay	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	636
HP:0001263	HP:0001263	Global developmental delay	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0001263	HP:0001263	Global developmental delay	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0001263	HP:0001263	Global developmental delay	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.	181
HP:0001263	HP:0001263	Global developmental delay	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent	405
HP:0001263	HP:0001263	Global developmental delay	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	HP:0040283 - Occasional	114
HP:0001263	HP:0001263	Global developmental delay	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0001263	HP:0001263	Global developmental delay	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0001263	HP:0001263	Global developmental delay	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0001263	HP:0001263	Global developmental delay	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0001263	HP:0001263	Global developmental delay	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0001263	HP:0001263	Global developmental delay	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6		161
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:0001263	HP:0001263	Global developmental delay	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0001263	HP:0001263	Global developmental delay	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0001263	HP:0001263	Global developmental delay	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:0001263	HP:0001263	Global developmental delay	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional	34
HP:0001263	HP:0001263	Global developmental delay	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent	34
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.	342
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional	342
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent	342
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0001263	HP:0001263	Global developmental delay	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent	17
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0001263	HP:0001263	Global developmental delay	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0001263	HP:0001263	Global developmental delay	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0001263	HP:0001263	Global developmental delay	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0001263	HP:0001263	Global developmental delay	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.	6
HP:0001263	HP:0001263	Global developmental delay	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040281 - Very frequent	2
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0001263	HP:0001263	Global developmental delay	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0001263	HP:0001263	Global developmental delay	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0001263	HP:0001263	Global developmental delay	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0001263	HP:0001263	Global developmental delay	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0001263	HP:0001263	Global developmental delay	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0001263	HP:0001263	Global developmental delay	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001263	HP:0001263	Global developmental delay	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0001263	HP:0001263	Global developmental delay	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0001263	HP:0001263	Global developmental delay	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040282 - Frequent	52
HP:0001263	HP:0001263	Global developmental delay	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001263	HP:0001263	Global developmental delay	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0001263	HP:0001263	Global developmental delay	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0001263	HP:0001263	Global developmental delay	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	15
HP:0001263	HP:0001263	Global developmental delay	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45	.	39
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0001263	HP:0001263	Global developmental delay	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001263	HP:0001263	Global developmental delay	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001263	HP:0001263	Global developmental delay	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040281 - Very frequent	45
HP:0001263	HP:0001263	Global developmental delay	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0001263	HP:0001263	Global developmental delay	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001263	HP:0001263	Global developmental delay	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0001263	HP:0001263	Global developmental delay	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent	4
HP:0001263	HP:0001263	Global developmental delay	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional	111
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0001263	HP:0001263	Global developmental delay	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	HP:0040281 - Very frequent	38
HP:0001263	HP:0001263	Global developmental delay	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0001263	HP:0001263	Global developmental delay	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0001263	HP:0001263	Global developmental delay	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	18
HP:0001263	HP:0001263	Global developmental delay	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.	47
HP:0001263	HP:0001263	Global developmental delay	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001263	HP:0001263	Global developmental delay	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001263	HP:0001263	Global developmental delay	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0001263	HP:0001263	Global developmental delay	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001263	HP:0001263	Global developmental delay	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0001263	HP:0001263	Global developmental delay	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0001263	HP:0001263	Global developmental delay	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0001263	HP:0001263	Global developmental delay	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0001263	HP:0001263	Global developmental delay	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0001263	HP:0001263	Global developmental delay	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0001263	HP:0001263	Global developmental delay	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001263	HP:0001263	Global developmental delay	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0001263	HP:0001263	Global developmental delay	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0001263	HP:0001263	Global developmental delay	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001263	HP:0001263	Global developmental delay	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001263	HP:0001263	Global developmental delay	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0001263	HP:0001263	Global developmental delay	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	HP:0040284 - Very rare	1
HP:0001263	HP:0001263	Global developmental delay	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0001263	HP:0001263	Global developmental delay	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0001263	HP:0001263	Global developmental delay	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0001263	HP:0001263	Global developmental delay	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0001263	HP:0001263	Global developmental delay	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0001263	HP:0001263	Global developmental delay	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0001263	HP:0001263	Global developmental delay	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0001263	HP:0001263	Global developmental delay	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0001263	HP:0001263	Global developmental delay	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0001263	HP:0001263	Global developmental delay	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001263	HP:0001263	Global developmental delay	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0001263	HP:0001263	Global developmental delay	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional	136
HP:0001263	HP:0001263	Global developmental delay	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0001263	HP:0001263	Global developmental delay	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0001263	HP:0001263	Global developmental delay	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001263	HP:0001263	Global developmental delay	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001263	HP:0001263	Global developmental delay	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0001263	HP:0001263	Global developmental delay	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040282 - Frequent	6
HP:0001263	HP:0001263	Global developmental delay	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001263	HP:0001263	Global developmental delay	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0001263	HP:0001263	Global developmental delay	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0001263	HP:0001263	Global developmental delay	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001263	HP:0001263	Global developmental delay	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional	156
HP:0001263	HP:0001263	Global developmental delay	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2	.	19
HP:0001263	HP:0001263	Global developmental delay	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001263	HP:0001263	Global developmental delay	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0001263	HP:0001263	Global developmental delay	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001263	HP:0001263	Global developmental delay	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001263	HP:0001263	Global developmental delay	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040283 - Occasional	158
HP:0001263	HP:0001263	Global developmental delay	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare	149
HP:0001263	HP:0001263	Global developmental delay	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0001263	HP:0001263	Global developmental delay	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001263	HP:0001263	Global developmental delay	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001263	HP:0001263	Global developmental delay	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0001263	HP:0001263	Global developmental delay	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0001263	HP:0001263	Global developmental delay	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0001263	HP:0001263	Global developmental delay	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	88
HP:0001263	HP:0001263	Global developmental delay	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0001263	HP:0001263	Global developmental delay	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0001263	HP:0001263	Global developmental delay	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0001263	HP:0001263	Global developmental delay	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001263	HP:0001263	Global developmental delay	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001263	HP:0001263	Global developmental delay	0	CUX1 CL E G H	1523	2557	OMIM:618330	Global developmental delay with or without impaired intellectual development	.	1
HP:0001263	HP:0001263	Global developmental delay	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0001263	HP:0001263	Global developmental delay	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent	4
HP:0001263	HP:0001263	Global developmental delay	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001263	HP:0001263	Global developmental delay	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0001263	HP:0001263	Global developmental delay	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0001263	HP:0001263	Global developmental delay	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0001263	HP:0001263	Global developmental delay	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0001263	HP:0001263	Global developmental delay	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0001263	HP:0001263	Global developmental delay	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040282 - Frequent	18
HP:0001263	HP:0001263	Global developmental delay	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0001263	HP:0001263	Global developmental delay	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001263	HP:0001263	Global developmental delay	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001263	HP:0001263	Global developmental delay	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001263	HP:0001263	Global developmental delay	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0001263	HP:0001263	Global developmental delay	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent	27
HP:0001263	HP:0001263	Global developmental delay	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0001263	HP:0001263	Global developmental delay	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent	29
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0001263	HP:0001263	Global developmental delay	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0001263	HP:0001263	Global developmental delay	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0001263	HP:0001263	Global developmental delay	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0001263	HP:0001263	Global developmental delay	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional	57
HP:0001263	HP:0001263	Global developmental delay	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0001263	HP:0001263	Global developmental delay	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0001263	HP:0001263	Global developmental delay	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001263	HP:0001263	Global developmental delay	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0001263	HP:0001263	Global developmental delay	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0001263	HP:0001263	Global developmental delay	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001263	HP:0001263	Global developmental delay	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0001263	HP:0001263	Global developmental delay	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0001263	HP:0001263	Global developmental delay	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	47
HP:0001263	HP:0001263	Global developmental delay	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0001263	HP:0001263	Global developmental delay	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001263	HP:0001263	Global developmental delay	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0001263	HP:0001263	Global developmental delay	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001263	HP:0001263	Global developmental delay	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0001263	HP:0001263	Global developmental delay	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0001263	HP:0001263	Global developmental delay	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.	670
HP:0001263	HP:0001263	Global developmental delay	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	65
HP:0001263	HP:0001263	Global developmental delay	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001263	HP:0001263	Global developmental delay	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0001263	HP:0001263	Global developmental delay	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040281 - Very frequent	89
HP:0001263	HP:0001263	Global developmental delay	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0001263	HP:0001263	Global developmental delay	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0001263	HP:0001263	Global developmental delay	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0001263	HP:0001263	Global developmental delay	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0001263	HP:0001263	Global developmental delay	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0001263	HP:0001263	Global developmental delay	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040281 - Very frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040284 - Very rare	5
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001263	HP:0001263	Global developmental delay	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	HP:0040283 - Occasional	72
HP:0001263	HP:0001263	Global developmental delay	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	72
HP:0001263	HP:0001263	Global developmental delay	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001263	HP:0001263	Global developmental delay	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	94
HP:0001263	HP:0001263	Global developmental delay	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0001263	HP:0001263	Global developmental delay	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0001263	HP:0001263	Global developmental delay	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0001263	HP:0001263	Global developmental delay	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0001263	HP:0001263	Global developmental delay	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001263	HP:0001263	Global developmental delay	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0001263	HP:0001263	Global developmental delay	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare	9
HP:0001263	HP:0001263	Global developmental delay	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0001263	HP:0001263	Global developmental delay	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001263	HP:0001263	Global developmental delay	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent	3
HP:0001263	HP:0001263	Global developmental delay	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0001263	HP:0001263	Global developmental delay	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001263	HP:0001263	Global developmental delay	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001263	HP:0001263	Global developmental delay	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001263	HP:0001263	Global developmental delay	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0001263	HP:0001263	Global developmental delay	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0001263	HP:0001263	Global developmental delay	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent	144
HP:0001263	HP:0001263	Global developmental delay	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040282 - Frequent	144
HP:0001263	HP:0001263	Global developmental delay	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001263	HP:0001263	Global developmental delay	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001263	HP:0001263	Global developmental delay	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001263	HP:0001263	Global developmental delay	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0001263	HP:0001263	Global developmental delay	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0001263	HP:0001263	Global developmental delay	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0001263	HP:0001263	Global developmental delay	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0001263	HP:0001263	Global developmental delay	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O		427
HP:0001263	HP:0001263	Global developmental delay	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0001263	HP:0001263	Global developmental delay	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	HP:0040283 - Occasional	427
HP:0001263	HP:0001263	Global developmental delay	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001263	HP:0001263	Global developmental delay	0	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:0001263	HP:0001263	Global developmental delay	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent	134
HP:0001263	HP:0001263	Global developmental delay	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0001263	HP:0001263	Global developmental delay	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0001263	HP:0001263	Global developmental delay	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001263	HP:0001263	Global developmental delay	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0001263	HP:0001263	Global developmental delay	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0001263	HP:0001263	Global developmental delay	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001263	HP:0001263	Global developmental delay	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.	33
HP:0001263	HP:0001263	Global developmental delay	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0001263	HP:0001263	Global developmental delay	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	6
HP:0001263	HP:0001263	Global developmental delay	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0001263	HP:0001263	Global developmental delay	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0001263	HP:0001263	Global developmental delay	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	60
HP:0001263	HP:0001263	Global developmental delay	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001263	HP:0001263	Global developmental delay	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001263	HP:0001263	Global developmental delay	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0001263	HP:0001263	Global developmental delay	0	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4		73
HP:0001263	HP:0001263	Global developmental delay	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0001263	HP:0001263	Global developmental delay	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040281 - Very frequent	223
HP:0001263	HP:0001263	Global developmental delay	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0001263	HP:0001263	Global developmental delay	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0001263	HP:0001263	Global developmental delay	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001263	HP:0001263	Global developmental delay	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0001263	HP:0001263	Global developmental delay	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0001263	HP:0001263	Global developmental delay	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0001263	HP:0001263	Global developmental delay	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0001263	HP:0001263	Global developmental delay	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.	67
HP:0001263	HP:0001263	Global developmental delay	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001263	HP:0001263	Global developmental delay	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0001263	HP:0001263	Global developmental delay	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0001263	HP:0001263	Global developmental delay	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0001263	HP:0001263	Global developmental delay	0	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:0001263	HP:0001263	Global developmental delay	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001263	HP:0001263	Global developmental delay	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0001263	HP:0001263	Global developmental delay	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0001263	HP:0001263	Global developmental delay	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0001263	HP:0001263	Global developmental delay	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001263	HP:0001263	Global developmental delay	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0001263	HP:0001263	Global developmental delay	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0001263	HP:0001263	Global developmental delay	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0001263	HP:0001263	Global developmental delay	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001263	HP:0001263	Global developmental delay	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0001263	HP:0001263	Global developmental delay	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0001263	HP:0001263	Global developmental delay	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0001263	HP:0001263	Global developmental delay	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001263	HP:0001263	Global developmental delay	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0001263	HP:0001263	Global developmental delay	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	158
HP:0001263	HP:0001263	Global developmental delay	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0001263	HP:0001263	Global developmental delay	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0001263	HP:0001263	Global developmental delay	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0001263	HP:0001263	Global developmental delay	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0001263	HP:0001263	Global developmental delay	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0001263	HP:0001263	Global developmental delay	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent	18
HP:0001263	HP:0001263	Global developmental delay	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0001263	HP:0001263	Global developmental delay	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0001263	HP:0001263	Global developmental delay	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0001263	HP:0001263	Global developmental delay	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	33
HP:0001263	HP:0001263	Global developmental delay	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0001263	HP:0001263	Global developmental delay	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0001263	HP:0001263	Global developmental delay	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0001263	HP:0001263	Global developmental delay	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC3