Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001249	HP:0001249	Intellectual disability	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	162	13666	605378
HP:0001249	HP:0001249	Intellectual disability	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	174	13666	605378
HP:0001249	HP:0001249	Intellectual disability	0	AARS CL E G H	16	442835				ORPHA	1		20	601065
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	97	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	108	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	97	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	108	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	2128	34	601691
HP:0001249	HP:0001249	Intellectual disability	0	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	2534	34	601691
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	99886				ORPHA	1	1125	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	99886				ORPHA	1	1253	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1125	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1253	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	1125	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	256450	Persistent hyperinsulinemic hypoglycemia of infancy	256450	C2931832	OMIM	1	1253	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	173	21396	604780
HP:0001249	HP:0001249	Intellectual disability	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	184	21396	604780
HP:0001249	HP:0001249	Intellectual disability	0	ACAT1 CL E G H	38	203750	Deficiency of acetyl-CoA acetyltransferase	203750	C1536500	OMIM	1	366	93	607809
HP:0001249	HP:0001249	Intellectual disability	0	ACAT1 CL E G H	38	203750	Deficiency of acetyl-CoA acetyltransferase	203750	C1536500	OMIM	1	412	93	607809
HP:0001249	HP:0001249	Intellectual disability	0	ACD CL E G H	65057	3322				ORPHA	1	229	25070	609377
HP:0001249	HP:0001249	Intellectual disability	0	ACD CL E G H	65057	3322				ORPHA	1	321	25070	609377
HP:0001249	HP:0001249	Intellectual disability	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001249	HP:0001249	Intellectual disability	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001249	HP:0001249	Intellectual disability	0	ACSL4 CL E G H	2182	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	233	3571	300157
HP:0001249	HP:0001249	Intellectual disability	0	ACSL4 CL E G H	2182	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	239	3571	300157
HP:0001249	HP:0001249	Intellectual disability	0	ACSL4 CL E G H	2182	300387	Mental retardation 63, X-linked	300387	C1845672	OMIM	1	233	3571	300157
HP:0001249	HP:0001249	Intellectual disability	0	ACSL4 CL E G H	2182	300387	Mental retardation 63, X-linked	300387	C1845672	OMIM	1	239	3571	300157
HP:0001249	HP:0001249	Intellectual disability	0	ACTA2 CL E G H	59	2573	Growth retardation alopecia pseudoanodontia optic			ORPHA	1	362	130	102620
HP:0001249	HP:0001249	Intellectual disability	0	ACTA2 CL E G H	59	2573	Growth retardation alopecia pseudoanodontia optic			ORPHA	1	387	130	102620
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	79107				ORPHA	1	349	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	322	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	349	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	322	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	349	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	347	144	102560
HP:0001249	HP:0001249	Intellectual disability	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	370	144	102560
HP:0001249	HP:0001249	Intellectual disability	0	ADAMTS3 CL E G H	9508	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	43	219	605011
HP:0001249	HP:0001249	Intellectual disability	0	ADAMTS3 CL E G H	9508	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	45	219	605011
HP:0001249	HP:0001249	Intellectual disability	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	76	25151	615302
HP:0001249	HP:0001249	Intellectual disability	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	85	25151	615302
HP:0001249	HP:0001249	Intellectual disability	0	ADGRG1 CL E G H	9289	615752	Polymicrogyria, bilateral perisylvian, autosomal recessive	615752	C3810405	OMIM	1	494	4512	604110
HP:0001249	HP:0001249	Intellectual disability	0	ADGRG1 CL E G H	9289	615752	Polymicrogyria, bilateral perisylvian, autosomal recessive	615752	C3810405	OMIM	1	536	4512	604110
HP:0001249	HP:0001249	Intellectual disability	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	251	15766	611386
HP:0001249	HP:0001249	Intellectual disability	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	268	15766	611386
HP:0001249	HP:0001249	Intellectual disability	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	368	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	582	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	368	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	582	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	AFF2 CL E G H	2334	309548	FRAXE	309548	C0751157	OMIM	1	341	3776	300806
HP:0001249	HP:0001249	Intellectual disability	0	AFF2 CL E G H	2334	309548	FRAXE	309548	C0751157	OMIM	1	349	3776	300806
HP:0001249	HP:0001249	Intellectual disability	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	112	17869	604417
HP:0001249	HP:0001249	Intellectual disability	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	157	17869	604417
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	93				ORPHA	1	330	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	93				ORPHA	1	355	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	265	26147	615900
HP:0001249	HP:0001249	Intellectual disability	0	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	377	26147	615900
HP:0001249	HP:0001249	Intellectual disability	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	203	325	603100
HP:0001249	HP:0001249	Intellectual disability	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	205	325	603100
HP:0001249	HP:0001249	Intellectual disability	0	AGRN CL E G H	375790	98914				ORPHA	1	1309	329	103320
HP:0001249	HP:0001249	Intellectual disability	0	AGRN CL E G H	375790	98914				ORPHA	1	1579	329	103320
HP:0001249	HP:0001249	Intellectual disability	0	AGTR2 CL E G H	186	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	181	338	300034
HP:0001249	HP:0001249	Intellectual disability	0	AGTR2 CL E G H	186	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	183	338	300034
HP:0001249	HP:0001249	Intellectual disability	0	AHCY CL E G H	191	613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	613752	C3151058	OMIM	1	113	343	180960
HP:0001249	HP:0001249	Intellectual disability	0	AHCY CL E G H	191	613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	613752	C3151058	OMIM	1	126	343	180960
HP:0001249	HP:0001249	Intellectual disability	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	312	25230	615790
HP:0001249	HP:0001249	Intellectual disability	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	373	25230	615790
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	220493				ORPHA	1	650	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	220493				ORPHA	1	827	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	650	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	827	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	650	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	827	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	650	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	827	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	204	348	600253
HP:0001249	HP:0001249	Intellectual disability	0	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	300	348	600253
HP:0001249	HP:0001249	Intellectual disability	0	AHSG CL E G H	197	2850				ORPHA	1	61	349	138680
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	101078				ORPHA	1	413	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	101078				ORPHA	1	450	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AKT1 CL E G H	207	201				ORPHA	1	380	391	164730
HP:0001249	HP:0001249	Intellectual disability	0	AKT1 CL E G H	207	201				ORPHA	1	417	391	164730
HP:0001249	HP:0001249	Intellectual disability	0	AKT3 CL E G H	10000	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	615937	C4014738	OMIM	1	228	393	611223
HP:0001249	HP:0001249	Intellectual disability	0	AKT3 CL E G H	10000	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	615937	C4014738	OMIM	1	249	393	611223
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	346	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	392	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	346	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	392	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	346	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	392	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	816				ORPHA	1	437	403	609523
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	816				ORPHA	1	475	403	609523
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	437	403	609523
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	475	403	609523
HP:0001249	HP:0001249	Intellectual disability	0	ALDH4A1 CL E G H	8659	239510	Deficiency of pyrroline-5-carboxylate reductase	239510	C2931835	OMIM	1	197	406	606811
HP:0001249	HP:0001249	Intellectual disability	0	ALDH4A1 CL E G H	8659	239510	Deficiency of pyrroline-5-carboxylate reductase	239510	C2931835	OMIM	1	220	406	606811
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	472	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	537	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	472	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	537	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	619	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	696	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	619	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	696	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	316	417	612724
HP:0001249	HP:0001249	Intellectual disability	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	330	417	612724
HP:0001249	HP:0001249	Intellectual disability	0	ALG13 CL E G H	79868	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	633	30881	300776
HP:0001249	HP:0001249	Intellectual disability	0	ALG13 CL E G H	79868	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	710	30881	300776
HP:0001249	HP:0001249	Intellectual disability	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	193	23159	607905
HP:0001249	HP:0001249	Intellectual disability	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	241	23159	607905
HP:0001249	HP:0001249	Intellectual disability	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	212	15672	606941
HP:0001249	HP:0001249	Intellectual disability	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	222	15672	606941
HP:0001249	HP:0001249	Intellectual disability	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	285	430	603741
HP:0001249	HP:0001249	Intellectual disability	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	291	430	603741
HP:0001249	HP:0001249	Intellectual disability	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	202	13743	607206
HP:0001249	HP:0001249	Intellectual disability	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	209	13743	607206
HP:0001249	HP:0001249	Intellectual disability	0	ALX1 CL E G H	8092	613456	Frontonasal dysplasia 3	613456	C3150706	OMIM	1	31	1494	601527
HP:0001249	HP:0001249	Intellectual disability	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	42	449	606014
HP:0001249	HP:0001249	Intellectual disability	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	43	449	606014
HP:0001249	HP:0001249	Intellectual disability	0	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	192	467	300195
HP:0001249	HP:0001249	Intellectual disability	0	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	196	467	300195
HP:0001249	HP:0001249	Intellectual disability	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	321	473	238310
HP:0001249	HP:0001249	Intellectual disability	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	382	473	238310
HP:0001249	HP:0001249	Intellectual disability	0	ANK1 CL E G H	286	251066				ORPHA	1	567	492	612641
HP:0001249	HP:0001249	Intellectual disability	0	ANK1 CL E G H	286	251066				ORPHA	1	604	492	612641
HP:0001249	HP:0001249	Intellectual disability	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1101	21316	611192
HP:0001249	HP:0001249	Intellectual disability	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1184	21316	611192
HP:0001249	HP:0001249	Intellectual disability	0	AP1S1 CL E G H	1174	171851				ORPHA	1	53	559	603531
HP:0001249	HP:0001249	Intellectual disability	0	AP1S1 CL E G H	1174	171851				ORPHA	1	55	559	603531
HP:0001249	HP:0001249	Intellectual disability	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	53	559	603531
HP:0001249	HP:0001249	Intellectual disability	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	55	559	603531
HP:0001249	HP:0001249	Intellectual disability	0	AP3B2 CL E G H	8120	442835				ORPHA	1	117	567	602166
HP:0001249	HP:0001249	Intellectual disability	0	AP3B2 CL E G H	8120	442835				ORPHA	1	288	567	602166
HP:0001249	HP:0001249	Intellectual disability	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0001249	HP:0001249	Intellectual disability	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0001249	HP:0001249	Intellectual disability	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	713	22197	613653
HP:0001249	HP:0001249	Intellectual disability	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	780	22197	613653
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	821				ORPHA	1	179	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	821				ORPHA	1	194	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1	179	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1	194	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APOPT1 CL E G H	84334	436271				ORPHA	1	125	20492	616003
HP:0001249	HP:0001249	Intellectual disability	0	APOPT1 CL E G H	84334	436271				ORPHA	1	129	20492	616003
HP:0001249	HP:0001249	Intellectual disability	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	125	20492	616003
HP:0001249	HP:0001249	Intellectual disability	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	129	20492	616003
HP:0001249	HP:0001249	Intellectual disability	0	APP CL E G H	351	324703				ORPHA	1	320	620	104760
HP:0001249	HP:0001249	Intellectual disability	0	APP CL E G H	351	324703				ORPHA	1	364	620	104760
HP:0001249	HP:0001249	Intellectual disability	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	239	634	107777
HP:0001249	HP:0001249	Intellectual disability	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	247	634	107777
HP:0001249	HP:0001249	Intellectual disability	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	69	649	600820
HP:0001249	HP:0001249	Intellectual disability	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	95	649	600820
HP:0001249	HP:0001249	Intellectual disability	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	234	663	608313
HP:0001249	HP:0001249	Intellectual disability	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	295	663	608313
HP:0001249	HP:0001249	Intellectual disability	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	174	29216	610911
HP:0001249	HP:0001249	Intellectual disability	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	210	29216	610911
HP:0001249	HP:0001249	Intellectual disability	0	ARHGDIA CL E G H	396	615244	Nephrotic syndrome, type 8	615244	C3808953	OMIM	1	41	678	601925
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	17090	616432
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	519	17090	616432
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	37	682	607560
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	41	682	607560
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF6 CL E G H	9459	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	238	685	300267
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF6 CL E G H	9459	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	243	685	300267
HP:0001249	HP:0001249	Intellectual disability	0	ARID1A CL E G H	8289	1465				ORPHA	1	383	11110	603024
HP:0001249	HP:0001249	Intellectual disability	0	ARID1A CL E G H	8289	1465				ORPHA	1	442	11110	603024
HP:0001249	HP:0001249	Intellectual disability	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	383	11110	603024
HP:0001249	HP:0001249	Intellectual disability	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	442	11110	603024
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	1465				ORPHA	1	866	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	1465				ORPHA	1	958	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	1465				ORPHA	1	179	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	1465				ORPHA	1	186	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	179	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	186	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	184	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	222	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	184	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	222	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	51	17146	615407
HP:0001249	HP:0001249	Intellectual disability	0	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	74	17146	615407
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	64	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	90	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	64	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	90	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	110				ORPHA	1	113	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	110				ORPHA	1	143	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	143	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	251	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	380	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	251	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	380	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	732	713	607574
HP:0001249	HP:0001249	Intellectual disability	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	841	713	607574
HP:0001249	HP:0001249	Intellectual disability	0	ARSI CL E G H	340075	401815				ORPHA	1	84	32521	610009
HP:0001249	HP:0001249	Intellectual disability	0	ARSI CL E G H	340075	401815				ORPHA	1	96	32521	610009
HP:0001249	HP:0001249	Intellectual disability	0	ARV1 CL E G H	64801	442835				ORPHA	1	62	29561	611647
HP:0001249	HP:0001249	Intellectual disability	0	ARV1 CL E G H	64801	442835				ORPHA	1	65	29561	611647
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	452				ORPHA	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	452				ORPHA	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	3175				ORPHA	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	3175				ORPHA	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	300419	Mental retardation, with or without seizures, ARX-related, X-linked	300419	C0796244	OMIM	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	300419	Mental retardation, with or without seizures, ARX-related, X-linked	300419	C0796244	OMIM	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	309510	Partington X-linked mental retardation syndrome	309510	C0796250	OMIM	1	565	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	309510	Partington X-linked mental retardation syndrome	309510	C0796250	OMIM	1	624	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	420	735	613468
HP:0001249	HP:0001249	Intellectual disability	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	593	735	613468
HP:0001249	HP:0001249	Intellectual disability	0	ASCL1 CL E G H	429	99803	Haddad syndrome		C1859587	ORPHA	1	32	738	100790
HP:0001249	HP:0001249	Intellectual disability	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	156	19088	607999
HP:0001249	HP:0001249	Intellectual disability	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	173	19088	607999
HP:0001249	HP:0001249	Intellectual disability	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	423	746	608310
HP:0001249	HP:0001249	Intellectual disability	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	469	746	608310
HP:0001249	HP:0001249	Intellectual disability	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	423	746	608310
HP:0001249	HP:0001249	Intellectual disability	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	469	746	608310
HP:0001249	HP:0001249	Intellectual disability	0	ASPA CL E G H	443	314911				ORPHA	1	245	756	608034
HP:0001249	HP:0001249	Intellectual disability	0	ASPA CL E G H	443	314911				ORPHA	1	281	756	608034
HP:0001249	HP:0001249	Intellectual disability	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	920	19048	605481
HP:0001249	HP:0001249	Intellectual disability	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	1103	19048	605481
HP:0001249	HP:0001249	Intellectual disability	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	481	758	603470
HP:0001249	HP:0001249	Intellectual disability	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	517	758	603470
HP:0001249	HP:0001249	Intellectual disability	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0001249	HP:0001249	Intellectual disability	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0001249	HP:0001249	Intellectual disability	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	411	29357	615115
HP:0001249	HP:0001249	Intellectual disability	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	432	29357	615115
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	496790				ORPHA	1	250	25567	612316
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	496790				ORPHA	1	264	25567	612316
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	250	25567	612316
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	264	25567	612316
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	726	800	182340
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	801	800	182340
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	726	800	182340
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	801	800	182340
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	625	801	182350
HP:0001249	HP:0001249	Intellectual disability	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	687	801	182350
HP:0001249	HP:0001249	Intellectual disability	0	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1	36	838	606153
HP:0001249	HP:0001249	Intellectual disability	0	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1	37	838	606153
HP:0001249	HP:0001249	Intellectual disability	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	263	18305	300556
HP:0001249	HP:0001249	Intellectual disability	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	286	18305	300556
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	417	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	458	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1A CL E G H	523	442835				ORPHA	1	79	851	607027
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1A CL E G H	523	442835				ORPHA	1	93	851	607027
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	79	851	607027
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	93	851	607027
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	1	115	854	606939
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	1	118	854	606939
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	198				ORPHA	1	897	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	198				ORPHA	1	1003	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	565				ORPHA	1	897	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	565				ORPHA	1	1003	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	897	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1003	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7B CL E G H	540	905				ORPHA	1	1389	870	606882
HP:0001249	HP:0001249	Intellectual disability	0	ATP7B CL E G H	540	905				ORPHA	1	1579	870	606882
HP:0001249	HP:0001249	Intellectual disability	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	126	13533	605870
HP:0001249	HP:0001249	Intellectual disability	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	193	13533	605870
HP:0001249	HP:0001249	Intellectual disability	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	126	13533	605870
HP:0001249	HP:0001249	Intellectual disability	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	193	13533	605870
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	755	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	1007	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	755	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	1007	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	239	33499	606605
HP:0001249	HP:0001249	Intellectual disability	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	333	33499	606605
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	847				ORPHA	1	1103	886	300032
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	847				ORPHA	1	1217	886	300032
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1103	886	300032
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1217	886	300032
HP:0001249	HP:0001249	Intellectual disability	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0001249	HP:0001249	Intellectual disability	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0001249	HP:0001249	Intellectual disability	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	371	897	300538
HP:0001249	HP:0001249	Intellectual disability	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	382	897	300538
HP:0001249	HP:0001249	Intellectual disability	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	343	28596	610194
HP:0001249	HP:0001249	Intellectual disability	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	411	28596	610194
HP:0001249	HP:0001249	Intellectual disability	0	B3GLCT CL E G H	145173	709				ORPHA	1	226	20207	610308
HP:0001249	HP:0001249	Intellectual disability	0	B3GLCT CL E G H	145173	709				ORPHA	1	248	20207	610308
HP:0001249	HP:0001249	Intellectual disability	0	B4GALNT1 CL E G H	2583	101006				ORPHA	1	148	4117	601873
HP:0001249	HP:0001249	Intellectual disability	0	B4GALNT1 CL E G H	2583	101006				ORPHA	1	169	4117	601873
HP:0001249	HP:0001249	Intellectual disability	0	B4GAT1 CL E G H	11041	899				ORPHA	1	122	15685	605517
HP:0001249	HP:0001249	Intellectual disability	0	B4GAT1 CL E G H	11041	899				ORPHA	1	151	15685	605517
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	196	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	230	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	196	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	230	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0001249	HP:0001249	Intellectual disability	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0001249	HP:0001249	Intellectual disability	0	BBIP1 CL E G H	92482	110				ORPHA	1	59	28093	613605
HP:0001249	HP:0001249	Intellectual disability	0	BBIP1 CL E G H	92482	110				ORPHA	1	71	28093	613605
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	110				ORPHA	1	491	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	110				ORPHA	1	582	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	491	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	582	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS10 CL E G H	79738	110				ORPHA	1	438	26291	610148
HP:0001249	HP:0001249	Intellectual disability	0	BBS10 CL E G H	79738	110				ORPHA	1	528	26291	610148
HP:0001249	HP:0001249	Intellectual disability	0	BBS12 CL E G H	166379	110				ORPHA	1	355	26648	610683
HP:0001249	HP:0001249	Intellectual disability	0	BBS12 CL E G H	166379	110				ORPHA	1	439	26648	610683
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	110				ORPHA	1	482	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	110				ORPHA	1	585	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	482	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	585	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	1	482	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	1	585	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS4 CL E G H	585	110				ORPHA	1	299	969	600374
HP:0001249	HP:0001249	Intellectual disability	0	BBS4 CL E G H	585	110				ORPHA	1	378	969	600374
HP:0001249	HP:0001249	Intellectual disability	0	BBS5 CL E G H	129880	110				ORPHA	1	147	970	603650
HP:0001249	HP:0001249	Intellectual disability	0	BBS5 CL E G H	129880	110				ORPHA	1	199	970	603650
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	110				ORPHA	1	254	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	110				ORPHA	1	326	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	615984	Bardet-Biedl syndrome 7	615984	C1859565	OMIM	1	254	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	615984	Bardet-Biedl syndrome 7	615984	C1859565	OMIM	1	326	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	110				ORPHA	1	426	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	110				ORPHA	1	512	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	615986	Bardet-Biedl syndrome 9	615986	C1859567	OMIM	1	426	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	615986	Bardet-Biedl syndrome 9	615986	C1859567	OMIM	1	512	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	384	986	608348
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	413	986	608348
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	448	987	248611
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	478	987	248611
HP:0001249	HP:0001249	Intellectual disability	0	BCKDK CL E G H	10295	614923	Branched-chain keto acid dehydrogenase kinase deficiency	614923	C3554078	OMIM	1	93	16902	614901
HP:0001249	HP:0001249	Intellectual disability	0	BCKDK CL E G H	10295	614923	Branched-chain keto acid dehydrogenase kinase deficiency	614923	C3554078	OMIM	1	101	16902	614901
HP:0001249	HP:0001249	Intellectual disability	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	125	13221	606557
HP:0001249	HP:0001249	Intellectual disability	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	129	13221	606557
HP:0001249	HP:0001249	Intellectual disability	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	118	13222	606558
HP:0001249	HP:0001249	Intellectual disability	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	197	13222	606558
HP:0001249	HP:0001249	Intellectual disability	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	118	13222	606558
HP:0001249	HP:0001249	Intellectual disability	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	197	13222	606558
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	502	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	536	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	502	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	536	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCR CL E G H	613	261330				ORPHA	1	214	1014	151410
HP:0001249	HP:0001249	Intellectual disability	0	BCR CL E G H	613	261330				ORPHA	1	217	1014	151410
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	279	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BDNF CL E G H	627	893				ORPHA	1	56	1033	113505
HP:0001249	HP:0001249	Intellectual disability	0	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	12703	607854
HP:0001249	HP:0001249	Intellectual disability	0	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	595	12703	607854
HP:0001249	HP:0001249	Intellectual disability	0	BPTF CL E G H	2186	617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	617755	C4540327	OMIM	1	129	3581	601819
HP:0001249	HP:0001249	Intellectual disability	0	BPTF CL E G H	2186	617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	617755	C4540327	OMIM	1	139	3581	601819
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	618	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	680	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	618	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	680	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	618	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	680	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	618	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	680	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	725	21701	614506
HP:0001249	HP:0001249	Intellectual disability	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	847	21701	614506
HP:0001249	HP:0001249	Intellectual disability	0	BRCA1 CL E G H	672	84				ORPHA	1	12207	1100	113705
HP:0001249	HP:0001249	Intellectual disability	0	BRCA1 CL E G H	672	84				ORPHA	1	12586	1100	113705
HP:0001249	HP:0001249	Intellectual disability	0	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12207	1100	113705
HP:0001249	HP:0001249	Intellectual disability	0	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	12586	1100	113705
HP:0001249	HP:0001249	Intellectual disability	0	BRCA2 CL E G H	675	84				ORPHA	1	13912	1101	600185
HP:0001249	HP:0001249	Intellectual disability	0	BRCA2 CL E G H	675	84				ORPHA	1	14742	1101	600185
HP:0001249	HP:0001249	Intellectual disability	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	142	11551	604902
HP:0001249	HP:0001249	Intellectual disability	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	158	11551	604902
HP:0001249	HP:0001249	Intellectual disability	0	BRIP1 CL E G H	83990	84				ORPHA	1	3464	20473	605882
HP:0001249	HP:0001249	Intellectual disability	0	BRIP1 CL E G H	83990	84				ORPHA	1	3778	20473	605882
HP:0001249	HP:0001249	Intellectual disability	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	160	14255	602410
HP:0001249	HP:0001249	Intellectual disability	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	173	14255	602410
HP:0001249	HP:0001249	Intellectual disability	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	330	15832	606158
HP:0001249	HP:0001249	Intellectual disability	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	373	15832	606158
HP:0001249	HP:0001249	Intellectual disability	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	198	16512	606412
HP:0001249	HP:0001249	Intellectual disability	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	209	16512	606412
HP:0001249	HP:0001249	Intellectual disability	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	86	1148	602452
HP:0001249	HP:0001249	Intellectual disability	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	88	1148	602452
HP:0001249	HP:0001249	Intellectual disability	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	511	1149	602860
HP:0001249	HP:0001249	Intellectual disability	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	617	1149	602860
HP:0001249	HP:0001249	Intellectual disability	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	51	1151	603719
HP:0001249	HP:0001249	Intellectual disability	0	C12orf57 CL E G H	113246	1777				ORPHA	1	199	29521	615140
HP:0001249	HP:0001249	Intellectual disability	0	C12orf57 CL E G H	113246	1777				ORPHA	1	208	29521	615140
HP:0001249	HP:0001249	Intellectual disability	0	C8orf37 CL E G H	157657	110				ORPHA	1		27232	614477
HP:0001249	HP:0001249	Intellectual disability	0	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0001249	HP:0001249	Intellectual disability	0	CA2 CL E G H	760	2785				ORPHA	1	104	1373	611492
HP:0001249	HP:0001249	Intellectual disability	0	CA2 CL E G H	760	2785				ORPHA	1	119	1373	611492
HP:0001249	HP:0001249	Intellectual disability	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	104	1373	611492
HP:0001249	HP:0001249	Intellectual disability	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	119	1373	611492
HP:0001249	HP:0001249	Intellectual disability	0	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	142	1375	114760
HP:0001249	HP:0001249	Intellectual disability	0	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	188	1375	114760
HP:0001249	HP:0001249	Intellectual disability	0	CA8 CL E G H	767	1766				ORPHA	1	77	1382	114815
HP:0001249	HP:0001249	Intellectual disability	0	CA8 CL E G H	767	1766				ORPHA	1	83	1382	114815
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1A CL E G H	773	442835				ORPHA	1	2047	1388	601011
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1A CL E G H	773	442835				ORPHA	1	2326	1388	601011
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2047	1388	601011
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2326	1388	601011
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	357	1394	604065
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	374	1394	604065
HP:0001249	HP:0001249	Intellectual disability	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	56	1460	114078
HP:0001249	HP:0001249	Intellectual disability	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	62	1460	114078
HP:0001249	HP:0001249	Intellectual disability	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	88	1461	607707
HP:0001249	HP:0001249	Intellectual disability	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	169	1461	607707
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	1425	Cole-Carpenter syndrome		C1862178	ORPHA	1	185	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	1425	Cole-Carpenter syndrome		C1862178	ORPHA	1	218	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	583	1497	300172
HP:0001249	HP:0001249	Intellectual disability	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	633	1497	300172
HP:0001249	HP:0001249	Intellectual disability	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	81	1527	601047
HP:0001249	HP:0001249	Intellectual disability	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	85	1527	601047
HP:0001249	HP:0001249	Intellectual disability	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	109	9688	603198
HP:0001249	HP:0001249	Intellectual disability	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	110	9688	603198
HP:0001249	HP:0001249	Intellectual disability	0	CBS CL E G H	875	394				ORPHA	1	792	1550	613381
HP:0001249	HP:0001249	Intellectual disability	0	CBS CL E G H	875	394				ORPHA	1	856	1550	613381
HP:0001249	HP:0001249	Intellectual disability	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	792	1550	613381
HP:0001249	HP:0001249	Intellectual disability	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	856	1550	613381
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	2318				ORPHA	1	881	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	2318				ORPHA	1	1064	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1	881	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1	1064	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	349	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	413	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	349	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	413	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0001249	HP:0001249	Intellectual disability	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0001249	HP:0001249	Intellectual disability	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1	258	19967	611204
HP:0001249	HP:0001249	Intellectual disability	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1	265	19967	611204
HP:0001249	HP:0001249	Intellectual disability	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	56	16892	606037
HP:0001249	HP:0001249	Intellectual disability	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	62	16892	606037
HP:0001249	HP:0001249	Intellectual disability	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	44	1736	116952
HP:0001249	HP:0001249	Intellectual disability	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	48	1736	116952
HP:0001249	HP:0001249	Intellectual disability	0	CDCA7 CL E G H	83879	2268				ORPHA	1	56	14628	609937
HP:0001249	HP:0001249	Intellectual disability	0	CDCA7 CL E G H	83879	2268				ORPHA	1	103	14628	609937
HP:0001249	HP:0001249	Intellectual disability	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	52	1750	600023
HP:0001249	HP:0001249	Intellectual disability	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	59	1750	600023
HP:0001249	HP:0001249	Intellectual disability	0	CDH23 CL E G H	64072	231169				ORPHA	1	2612	13733	605516
HP:0001249	HP:0001249	Intellectual disability	0	CDH23 CL E G H	64072	231169				ORPHA	1	3075	13733	605516
HP:0001249	HP:0001249	Intellectual disability	0	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	496	14550	609502
HP:0001249	HP:0001249	Intellectual disability	0	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	623	14550	609502
HP:0001249	HP:0001249	Intellectual disability	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	191	1733	603309
HP:0001249	HP:0001249	Intellectual disability	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	210	1733	603309
HP:0001249	HP:0001249	Intellectual disability	0	CDKL5 CL E G H	6792	3095				ORPHA	1	1270	11411	300203
HP:0001249	HP:0001249	Intellectual disability	0	CDKL5 CL E G H	6792	3095				ORPHA	1	1399	11411	300203
HP:0001249	HP:0001249	Intellectual disability	0	CDON CL E G H	50937	280200				ORPHA	1	489	17104	608707
HP:0001249	HP:0001249	Intellectual disability	0	CDON CL E G H	50937	280200				ORPHA	1	518	17104	608707
HP:0001249	HP:0001249	Intellectual disability	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	252	1856	117143
HP:0001249	HP:0001249	Intellectual disability	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	262	1856	117143
HP:0001249	HP:0001249	Intellectual disability	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	347	17272	609279
HP:0001249	HP:0001249	Intellectual disability	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	399	17272	609279
HP:0001249	HP:0001249	Intellectual disability	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	354	24866	616690
HP:0001249	HP:0001249	Intellectual disability	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	384	24866	616690
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	220493				ORPHA	1	210	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	220493				ORPHA	1	250	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	210	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	250	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	334	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	404	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	334	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	404	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	110				ORPHA	1	1535	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	110				ORPHA	1	1902	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	2318				ORPHA	1	1535	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	2318				ORPHA	1	1902	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	615991	Bardet-Biedl syndrome 14	615991	C2673874	OMIM	1	1535	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	615991	Bardet-Biedl syndrome 14	615991	C2673874	OMIM	1	1902	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1535	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1902	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	220493				ORPHA	1	297	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	220493				ORPHA	1	347	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	297	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	347	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	297	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	347	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	212	30794	607951
HP:0001249	HP:0001249	Intellectual disability	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	275	30794	607951
HP:0001249	HP:0001249	Intellectual disability	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	167	25815	614724
HP:0001249	HP:0001249	Intellectual disability	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	200	25815	614724
HP:0001249	HP:0001249	Intellectual disability	0	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	21699	608381
HP:0001249	HP:0001249	Intellectual disability	0	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	502	21699	608381
HP:0001249	HP:0001249	Intellectual disability	0	CERS1 CL E G H	10715	616230	Epilepsy, progressive myoclonic 8	616230	C4015619	OMIM	1	223	14253	606919
HP:0001249	HP:0001249	Intellectual disability	0	CERS1 CL E G H	10715	616230	Epilepsy, progressive myoclonic 8	616230	C4015619	OMIM	1	289	14253	606919
HP:0001249	HP:0001249	Intellectual disability	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	191	20311	616327
HP:0001249	HP:0001249	Intellectual disability	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	202	20311	616327
HP:0001249	HP:0001249	Intellectual disability	0	CHAT CL E G H	1103	98914				ORPHA	1	511	1912	118490
HP:0001249	HP:0001249	Intellectual disability	0	CHAT CL E G H	1103	98914				ORPHA	1	652	1912	118490
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	529965				ORPHA	1	67	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	529965				ORPHA	1	74	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	67	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	74	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	2382				ORPHA	1	1163	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	2382				ORPHA	1	1326	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1163	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1326	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	190	1919	603277
HP:0001249	HP:0001249	Intellectual disability	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	217	1919	603277
HP:0001249	HP:0001249	Intellectual disability	0	CHD7 CL E G H	55636	138				ORPHA	1	1752	20626	608892
HP:0001249	HP:0001249	Intellectual disability	0	CHD7 CL E G H	55636	138				ORPHA	1	1980	20626	608892
HP:0001249	HP:0001249	Intellectual disability	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	335	1938	612395
HP:0001249	HP:0001249	Intellectual disability	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	382	1938	612395
HP:0001249	HP:0001249	Intellectual disability	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	172	8740	164010
HP:0001249	HP:0001249	Intellectual disability	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	183	8740	164010
HP:0001249	HP:0001249	Intellectual disability	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	340	1960	118511
HP:0001249	HP:0001249	Intellectual disability	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	346	1960	118511
HP:0001249	HP:0001249	Intellectual disability	0	CIB2 CL E G H	10518	231169				ORPHA	1	137	24579	605564
HP:0001249	HP:0001249	Intellectual disability	0	CIB2 CL E G H	10518	231169				ORPHA	1	163	24579	605564
HP:0001249	HP:0001249	Intellectual disability	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	191	14214	612082
HP:0001249	HP:0001249	Intellectual disability	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	212	14214	612082
HP:0001249	HP:0001249	Intellectual disability	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	319	1985	605629
HP:0001249	HP:0001249	Intellectual disability	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	329	1985	605629
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	78	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	94	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CLCN4 CL E G H	1183	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	479	2022	302910
HP:0001249	HP:0001249	Intellectual disability	0	CLCN4 CL E G H	1183	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	512	2022	302910
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	186	2026	602024
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	187	2026	602024
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	304	2027	602023
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	338	2027	602023
HP:0001249	HP:0001249	Intellectual disability	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0001249	HP:0001249	Intellectual disability	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0001249	HP:0001249	Intellectual disability	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	682	2074	607042
HP:0001249	HP:0001249	Intellectual disability	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	766	2074	607042
HP:0001249	HP:0001249	Intellectual disability	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	449	2076	608102
HP:0001249	HP:0001249	Intellectual disability	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	509	2076	608102
HP:0001249	HP:0001249	Intellectual disability	0	CLN8 CL E G H	2055	1947				ORPHA	1	431	2079	607837
HP:0001249	HP:0001249	Intellectual disability	0	CLN8 CL E G H	2055	1947				ORPHA	1	483	2079	607837
HP:0001249	HP:0001249	Intellectual disability	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	431	2079	607837
HP:0001249	HP:0001249	Intellectual disability	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	483	2079	607837
HP:0001249	HP:0001249	Intellectual disability	0	CLP1 CL E G H	10978	411493				ORPHA	1	40	16999	608757
HP:0001249	HP:0001249	Intellectual disability	0	CLP1 CL E G H	10978	411493				ORPHA	1	49	16999	608757
HP:0001249	HP:0001249	Intellectual disability	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	337	30664	616254
HP:0001249	HP:0001249	Intellectual disability	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	404	30664	616254
HP:0001249	HP:0001249	Intellectual disability	0	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	12605	606397
HP:0001249	HP:0001249	Intellectual disability	0	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	272	12605	606397
HP:0001249	HP:0001249	Intellectual disability	0	CLTC CL E G H	1213	442835				ORPHA	1	102	2092	118955
HP:0001249	HP:0001249	Intellectual disability	0	CLTC CL E G H	1213	442835				ORPHA	1	202	2092	118955
HP:0001249	HP:0001249	Intellectual disability	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	102	2092	118955
HP:0001249	HP:0001249	Intellectual disability	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	202	2092	118955
HP:0001249	HP:0001249	Intellectual disability	0	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	243	2148	123825
HP:0001249	HP:0001249	Intellectual disability	0	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	304	2148	123825
HP:0001249	HP:0001249	Intellectual disability	0	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	642	2151	600724
HP:0001249	HP:0001249	Intellectual disability	0	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	799	2151	600724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	249	19701	300724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	256	19701	300724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	249	19701	300724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	256	19701	300724
HP:0001249	HP:0001249	Intellectual disability	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	176	103	607803
HP:0001249	HP:0001249	Intellectual disability	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	191	103	607803
HP:0001249	HP:0001249	Intellectual disability	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1339	13830	604569
HP:0001249	HP:0001249	Intellectual disability	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1505	13830	604569
HP:0001249	HP:0001249	Intellectual disability	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	27	25716	615623
HP:0001249	HP:0001249	Intellectual disability	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	31	25716	615623
HP:0001249	HP:0001249	Intellectual disability	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	311	14857	606821
HP:0001249	HP:0001249	Intellectual disability	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	490	14857	606821
HP:0001249	HP:0001249	Intellectual disability	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	281	18621	606977
HP:0001249	HP:0001249	Intellectual disability	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	297	18621	606977
HP:0001249	HP:0001249	Intellectual disability	0	COG6 CL E G H	57511	615328	Shaheen syndrome	615328	C3809160	OMIM	1	281	18621	606977
HP:0001249	HP:0001249	Intellectual disability	0	COG6 CL E G H	57511	615328	Shaheen syndrome	615328	C3809160	OMIM	1	297	18621	606977
HP:0001249	HP:0001249	Intellectual disability	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	156	18623	606979
HP:0001249	HP:0001249	Intellectual disability	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	177	18623	606979
HP:0001249	HP:0001249	Intellectual disability	0	COL13A1 CL E G H	1305	98914				ORPHA	1	179	2190	120350
HP:0001249	HP:0001249	Intellectual disability	0	COL13A1 CL E G H	1305	98914				ORPHA	1	294	2190	120350
HP:0001249	HP:0001249	Intellectual disability	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	1935	2201	120180
HP:0001249	HP:0001249	Intellectual disability	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	2083	2201	120180
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	899				ORPHA	1	837	2202	120130
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	899				ORPHA	1	1010	2202	120130
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	837	2202	120130
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1010	2202	120130
HP:0001249	HP:0001249	Intellectual disability	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1		2205	604677
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	293843				ORPHA	1	54	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	293843				ORPHA	1	55	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	54	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	55	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC11 CL E G H	78989	293843				ORPHA	1	62	17213	612502
HP:0001249	HP:0001249	Intellectual disability	0	COLEC11 CL E G H	78989	293843				ORPHA	1	65	17213	612502
HP:0001249	HP:0001249	Intellectual disability	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0001249	HP:0001249	Intellectual disability	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0001249	HP:0001249	Intellectual disability	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	247	2260	602125
HP:0001249	HP:0001249	Intellectual disability	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	263	2260	602125
HP:0001249	HP:0001249	Intellectual disability	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	247	2260	602125
HP:0001249	HP:0001249	Intellectual disability	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	263	2260	602125
HP:0001249	HP:0001249	Intellectual disability	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	24	28216	614478
HP:0001249	HP:0001249	Intellectual disability	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0001249	HP:0001249	Intellectual disability	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	216	2263	603646
HP:0001249	HP:0001249	Intellectual disability	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	233	2263	603646
HP:0001249	HP:0001249	Intellectual disability	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	139	26970	614698
HP:0001249	HP:0001249	Intellectual disability	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	155	26970	614698
HP:0001249	HP:0001249	Intellectual disability	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	44	2280	124089
HP:0001249	HP:0001249	Intellectual disability	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0001249	HP:0001249	Intellectual disability	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	18	2294	123870
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	824	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1239	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	824	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	1239	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	824	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1239	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLX1 CL E G H	10815	617976	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	617976	CN244926	OMIM	1	151	2309	605032
HP:0001249	HP:0001249	Intellectual disability	0	CPLX1 CL E G H	10815	617976	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	617976	CN244926	OMIM	1	163	2309	605032
HP:0001249	HP:0001249	Intellectual disability	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	814	2323	608307
HP:0001249	HP:0001249	Intellectual disability	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	910	2323	608307
HP:0001249	HP:0001249	Intellectual disability	0	CRADD CL E G H	8738	614499	Mental retardation, autosomal recessive 34	614499	C3281044	OMIM	1	44	2340	603454
HP:0001249	HP:0001249	Intellectual disability	0	CRADD CL E G H	8738	614499	Mental retardation, autosomal recessive 34	614499	C3281044	OMIM	1	46	2340	603454
HP:0001249	HP:0001249	Intellectual disability	0	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	2343	604210
HP:0001249	HP:0001249	Intellectual disability	0	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1085	2343	604210
HP:0001249	HP:0001249	Intellectual disability	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0001249	HP:0001249	Intellectual disability	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0001249	HP:0001249	Intellectual disability	0	CRKL CL E G H	1399	261330				ORPHA	1	398	2363	602007
HP:0001249	HP:0001249	Intellectual disability	0	CRKL CL E G H	1399	261330				ORPHA	1	406	2363	602007
HP:0001249	HP:0001249	Intellectual disability	0	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	361	2383	602225
HP:0001249	HP:0001249	Intellectual disability	0	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	419	2383	602225
HP:0001249	HP:0001249	Intellectual disability	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	177	2457	115440
HP:0001249	HP:0001249	Intellectual disability	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	182	2457	115440
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	476	26193	611654
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	687	26193	611654
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	476	26193	611654
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	687	26193	611654
HP:0001249	HP:0001249	Intellectual disability	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	190	13723	604167
HP:0001249	HP:0001249	Intellectual disability	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	201	13723	604167
HP:0001249	HP:0001249	Intellectual disability	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	323	2498	604927
HP:0001249	HP:0001249	Intellectual disability	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	348	2498	604927
HP:0001249	HP:0001249	Intellectual disability	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	269	2514	116806
HP:0001249	HP:0001249	Intellectual disability	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	364	2514	116806
HP:0001249	HP:0001249	Intellectual disability	0	CTSA CL E G H	5476	351				ORPHA	1	149	9251	613111
HP:0001249	HP:0001249	Intellectual disability	0	CTSA CL E G H	5476	351				ORPHA	1	210	9251	613111
HP:0001249	HP:0001249	Intellectual disability	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	310	2555	300304
HP:0001249	HP:0001249	Intellectual disability	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	322	2555	300304
HP:0001249	HP:0001249	Intellectual disability	0	CUX2 CL E G H	23316	2382				ORPHA	1	68	19347	610648
HP:0001249	HP:0001249	Intellectual disability	0	CUX2 CL E G H	23316	2382				ORPHA	1	75	19347	610648
HP:0001249	HP:0001249	Intellectual disability	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	135	10664	617170
HP:0001249	HP:0001249	Intellectual disability	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	196	10664	617170
HP:0001249	HP:0001249	Intellectual disability	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	59	25613	616120
HP:0001249	HP:0001249	Intellectual disability	0	CXorf56 CL E G H	63932	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1		26239	301012
HP:0001249	HP:0001249	Intellectual disability	0	CXorf56 CL E G H	63932	301013	MENTAL RETARDATION, X-LINKED 107	301013	CN244560	OMIM	1		26239	301012
HP:0001249	HP:0001249	Intellectual disability	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	134	2873	613213
HP:0001249	HP:0001249	Intellectual disability	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	144	2873	613213
HP:0001249	HP:0001249	Intellectual disability	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	84	13760	606323
HP:0001249	HP:0001249	Intellectual disability	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	175	13760	606323
HP:0001249	HP:0001249	Intellectual disability	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	201	2602	126065
HP:0001249	HP:0001249	Intellectual disability	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	220	2602	126065
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	909				ORPHA	1	439	2605	606530
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	909				ORPHA	1	599	2605	606530
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	439	2605	606530
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	599	2605	606530
HP:0001249	HP:0001249	Intellectual disability	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	331	28358	609186
HP:0001249	HP:0001249	Intellectual disability	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	357	28358	609186
HP:0001249	HP:0001249	Intellectual disability	0	DAG1 CL E G H	1605	899				ORPHA	1	376	2666	128239
HP:0001249	HP:0001249	Intellectual disability	0	DAG1 CL E G H	1605	899				ORPHA	1	467	2666	128239
HP:0001249	HP:0001249	Intellectual disability	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	376	2666	128239
HP:0001249	HP:0001249	Intellectual disability	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	467	2666	128239
HP:0001249	HP:0001249	Intellectual disability	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	467	2698	248610
HP:0001249	HP:0001249	Intellectual disability	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	511	2698	248610
HP:0001249	HP:0001249	Intellectual disability	0	DCAF17 CL E G H	80067	3464				ORPHA	1	229	25784	612515
HP:0001249	HP:0001249	Intellectual disability	0	DCAF17 CL E G H	80067	3464				ORPHA	1	251	25784	612515
HP:0001249	HP:0001249	Intellectual disability	0	DCAF17 CL E G H	80067	241080	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	241080	C0342286	OMIM	1	229	25784	612515
HP:0001249	HP:0001249	Intellectual disability	0	DCAF17 CL E G H	80067	241080	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	241080	C0342286	OMIM	1	251	25784	612515
HP:0001249	HP:0001249	Intellectual disability	0	DCC CL E G H	1630	617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2	617542	C4479640	OMIM	1	160	2701	120470
HP:0001249	HP:0001249	Intellectual disability	0	DCC CL E G H	1630	617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2	617542	C4479640	OMIM	1	162	2701	120470
HP:0001249	HP:0001249	Intellectual disability	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	347	13681	603057
HP:0001249	HP:0001249	Intellectual disability	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	502	13681	603057
HP:0001249	HP:0001249	Intellectual disability	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	357	2714	300121
HP:0001249	HP:0001249	Intellectual disability	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	368	2714	300121
HP:0001249	HP:0001249	Intellectual disability	0	DDHD2 CL E G H	23259	320380				ORPHA	1	192	29106	615003
HP:0001249	HP:0001249	Intellectual disability	0	DDHD2 CL E G H	23259	320380				ORPHA	1	230	29106	615003
HP:0001249	HP:0001249	Intellectual disability	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	192	29106	615003
HP:0001249	HP:0001249	Intellectual disability	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	230	29106	615003
HP:0001249	HP:0001249	Intellectual disability	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	123	2736	601150
HP:0001249	HP:0001249	Intellectual disability	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	126	2736	601150
HP:0001249	HP:0001249	Intellectual disability	0	DDX3X CL E G H	1654	457260				ORPHA	1	461	2745	300160
HP:0001249	HP:0001249	Intellectual disability	0	DDX3X CL E G H	1654	457260				ORPHA	1	496	2745	300160
HP:0001249	HP:0001249	Intellectual disability	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	461	2745	300160
HP:0001249	HP:0001249	Intellectual disability	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	496	2745	300160
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	2919				ORPHA	1	48	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	2919				ORPHA	1	56	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	174300	Orofaciodigital syndrome 5	174300	C1868118	OMIM	1	48	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	174300	Orofaciodigital syndrome 5	174300	C1868118	OMIM	1	56	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	819				ORPHA	1	179	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	819				ORPHA	1	311	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	179	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	311	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	615828	Mental retardation, autosomal dominant 24	615828	C4014414	OMIM	1	179	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	615828	Mental retardation, autosomal dominant 24	615828	C4014414	OMIM	1	311	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DHCR24 CL E G H	1718	35107				ORPHA	1	180	2859	606418
HP:0001249	HP:0001249	Intellectual disability	0	DHCR24 CL E G H	1718	35107				ORPHA	1	198	2859	606418
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	818				ORPHA	1	511	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	818				ORPHA	1	546	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	511	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	546	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	442835				ORPHA	1	199	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	442835				ORPHA	1	256	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	199	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	256	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	199	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	256	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	49	16716	616423
HP:0001249	HP:0001249	Intellectual disability	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	58	16716	616423
HP:0001249	HP:0001249	Intellectual disability	0	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	328	17211	605584
HP:0001249	HP:0001249	Intellectual disability	0	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	470	17211	605584
HP:0001249	HP:0001249	Intellectual disability	0	DIP2B CL E G H	57609	136630	Mental retardation, fra12a type	136630	C1969893	OMIM	1	42	29284	611379
HP:0001249	HP:0001249	Intellectual disability	0	DIP2B CL E G H	57609	136630	Mental retardation, fra12a type	136630	C1969893	OMIM	1	44	29284	611379
HP:0001249	HP:0001249	Intellectual disability	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1249	28648	614184