Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	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	79	99	13666	605378
HP:0001249	HP:0001249	Intellectual disability	0	AARS CL E G H	16	442835				ORPHA	1	21		20	601065
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	14	66	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	14	66	17366	605113
HP:0001249	HP:0001249	Intellectual disability	0	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1280	1511	34	601691
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	99886				ORPHA	1	661	602	59	600509
HP:0001249	HP:0001249	Intellectual disability	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	661	602	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	661	602	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	39	155	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	97	246	93	607809
HP:0001249	HP:0001249	Intellectual disability	0	ACD CL E G H	65057	3322				ORPHA	1	9	135	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	1	13	16066	617036
HP:0001249	HP:0001249	Intellectual disability	0	ACSL4 CL E G H	2182	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	7	209	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	7	209	3571	300157
HP:0001249	HP:0001249	Intellectual disability	0	ACTA2 CL E G H	59	2573	Growth retardation alopecia pseudoanodontia optic			ORPHA	1	83	290	130	102620
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	79107				ORPHA	1	65	224	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	224	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001249	HP:0001249	Intellectual disability	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001249	HP:0001249	Intellectual disability	0	ADAMTS3 CL E G H	9508	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	4	38	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	2	67	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	36	277	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	68	179	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	58	279	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001249	HP:0001249	Intellectual disability	0	AFF2 CL E G H	2334	309548	FRAXE	309548	C0751157	OMIM	1	29	298	3776	300806
HP:0001249	HP:0001249	Intellectual disability	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	3	66	17869	604417
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	93				ORPHA	1	38	239	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	38	239	318	613228
HP:0001249	HP:0001249	Intellectual disability	0	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	9	114	26147	615900
HP:0001249	HP:0001249	Intellectual disability	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	43	189	325	603100
HP:0001249	HP:0001249	Intellectual disability	0	AGRN CL E G H	375790	98914				ORPHA	1	18	942	329	103320
HP:0001249	HP:0001249	Intellectual disability	0	AGTR2 CL E G H	186	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	10	179	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	15	94	343	180960
HP:0001249	HP:0001249	Intellectual disability	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	34	184	25230	615790
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	220493				ORPHA	1	96	422	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	96	422	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	96	422	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	422	21575	608894
HP:0001249	HP:0001249	Intellectual disability	0	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	4	116	348	600253
HP:0001249	HP:0001249	Intellectual disability	0	AHSG CL E G H	197	2850				ORPHA	1	6	57	349	138680
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	101078				ORPHA	1	33	343	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	33	343	8768	300169
HP:0001249	HP:0001249	Intellectual disability	0	AKT1 CL E G H	207	201				ORPHA	1	12	269	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	28	175	393	611223
HP:0001249	HP:0001249	Intellectual disability	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	33	252	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	33	252	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	33	252	9722	138250
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	816				ORPHA	1	111	308	403	609523
HP:0001249	HP:0001249	Intellectual disability	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	111	308	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	5	171	406	606811
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	75	334	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	334	408	610045
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	129	498	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	129	498	877	107323
HP:0001249	HP:0001249	Intellectual disability	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	210	417	612724
HP:0001249	HP:0001249	Intellectual disability	0	ALG13 CL E G H	79868	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	14	463	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	5	153	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	4	160	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	64	156	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	22	138	13743	607206
HP:0001249	HP:0001249	Intellectual disability	0	ALX1 CL E G H	8092	613456	Frontonasal dysplasia 3	613456	C3150706	OMIM	1	5	29	1494	601527
HP:0001249	HP:0001249	Intellectual disability	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	8	35	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	5	181	467	300195
HP:0001249	HP:0001249	Intellectual disability	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	96	208	473	238310
HP:0001249	HP:0001249	Intellectual disability	0	ANK1 CL E G H	286	251066				ORPHA	1	111	388	492	612641
HP:0001249	HP:0001249	Intellectual disability	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	134	721	21316	611192
HP:0001249	HP:0001249	Intellectual disability	0	AP1S1 CL E G H	1174	171851				ORPHA	1	2	36	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	2	36	559	603531
HP:0001249	HP:0001249	Intellectual disability	0	AP3B2 CL E G H	8120	442835				ORPHA	1	12	90	567	602166
HP:0001249	HP:0001249	Intellectual disability	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	16	536	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	16	536	22197	613653
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	821				ORPHA	1	3	156	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APC2 CL E G H	10297	617169	Sotos syndrome 3	617169	C4310684	OMIM	1	3	156	24036	612034
HP:0001249	HP:0001249	Intellectual disability	0	APOPT1 CL E G H	84334	436271				ORPHA	1		93	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		93	20492	616003
HP:0001249	HP:0001249	Intellectual disability	0	APP CL E G H	351	324703				ORPHA	1	107	232	620	104760
HP:0001249	HP:0001249	Intellectual disability	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	66	176	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	3	51	649	600820
HP:0001249	HP:0001249	Intellectual disability	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	74	132	663	608313
HP:0001249	HP:0001249	Intellectual disability	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	7	103	29216	610911
HP:0001249	HP:0001249	Intellectual disability	0	ARHGDIA CL E G H	396	615244	Nephrotic syndrome, type 8	615244	C3808953	OMIM	1	3	36	678	601925
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7	151	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	2	31	682	607560
HP:0001249	HP:0001249	Intellectual disability	0	ARHGEF6 CL E G H	9459	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	5	228	685	300267
HP:0001249	HP:0001249	Intellectual disability	0	ARID1A CL E G H	8289	1465				ORPHA	1	36	175	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	36	175	11110	603024
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	1465				ORPHA	1	188	575	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	1465				ORPHA	1	11	115	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	11	115	18037	609539
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	10	120	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	120	25419	608922
HP:0001249	HP:0001249	Intellectual disability	0	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	5	35	17146	615407
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	3	33	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3	33	694	604695
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	110				ORPHA	1	21	79	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	21	79	13210	608845
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	11	105	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	105	20730	617612
HP:0001249	HP:0001249	Intellectual disability	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	567	713	607574
HP:0001249	HP:0001249	Intellectual disability	0	ARSI CL E G H	340075	401815				ORPHA	1	2	70	32521	610009
HP:0001249	HP:0001249	Intellectual disability	0	ARV1 CL E G H	64801	442835				ORPHA	1	3	54	29561	611647
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	3175				ORPHA	1	98	466	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	452				ORPHA	1	98	466	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ARX CL E G H	170302	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	98	466	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	98	466	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	98	466	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	98	466	18060	300382
HP:0001249	HP:0001249	Intellectual disability	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	71	306	735	613468
HP:0001249	HP:0001249	Intellectual disability	0	ASCL1 CL E G H	429	99803	Haddad syndrome		C1859587	ORPHA	1	6	30	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	19	83	19088	607999
HP:0001249	HP:0001249	Intellectual disability	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	169	264	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	169	264	746	608310
HP:0001249	HP:0001249	Intellectual disability	0	ASPA CL E G H	443	314911				ORPHA	1	102	177	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	213	790	19048	605481
HP:0001249	HP:0001249	Intellectual disability	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	157	323	758	603470
HP:0001249	HP:0001249	Intellectual disability	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	6	81	23805	612991
HP:0001249	HP:0001249	Intellectual disability	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	50	174	29357	615115
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	496790				ORPHA	1	17	186	25567	612316
HP:0001249	HP:0001249	Intellectual disability	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	186	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	99	537	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	99	537	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	122	407	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	1	28	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	6	226	18305	300556
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	56	309	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	56	309	18481	611716
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1A CL E G H	523	442835				ORPHA	1	9	47	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	9	47	851	607027
HP:0001249	HP:0001249	Intellectual disability	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	1	4	93	854	606939
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	565				ORPHA	1	357	607	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	198				ORPHA	1	357	607	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	357	607	869	300011
HP:0001249	HP:0001249	Intellectual disability	0	ATP7B CL E G H	540	905				ORPHA	1	938	958	870	606882
HP:0001249	HP:0001249	Intellectual disability	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	11	91	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	11	91	13533	605870
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	34	404	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	34	404	882	601215
HP:0001249	HP:0001249	Intellectual disability	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	2	183	33499	606605
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	847				ORPHA	1	170	663	886	300032
HP:0001249	HP:0001249	Intellectual disability	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	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	62	242	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	286	356	897	300538
HP:0001249	HP:0001249	Intellectual disability	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	16	221	28596	610194
HP:0001249	HP:0001249	Intellectual disability	0	B3GLCT CL E G H	145173	709				ORPHA	1	15	181	20207	610308
HP:0001249	HP:0001249	Intellectual disability	0	B4GALNT1 CL E G H	2583	101006				ORPHA	1	13	97	4117	601873
HP:0001249	HP:0001249	Intellectual disability	0	B4GAT1 CL E G H	11041	899				ORPHA	1	7	84	15685	605517
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	10	158	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	10	158	24123	614144
HP:0001249	HP:0001249	Intellectual disability	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	187	961	605681
HP:0001249	HP:0001249	Intellectual disability	0	BBIP1 CL E G H	92482	110				ORPHA	1	1	43	28093	613605
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	110				ORPHA	1	105	309	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	309	966	209901
HP:0001249	HP:0001249	Intellectual disability	0	BBS10 CL E G H	79738	110				ORPHA	1	109	317	26291	610148
HP:0001249	HP:0001249	Intellectual disability	0	BBS12 CL E G H	166379	110				ORPHA	1	61	237	26648	610683
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	110				ORPHA	1	96	277	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	96	277	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS2 CL E G H	583	615981	Bardet-Biedl syndrome 2	615981	C2936863	OMIM	1	96	277	967	606151
HP:0001249	HP:0001249	Intellectual disability	0	BBS4 CL E G H	585	110				ORPHA	1	54	217	969	600374
HP:0001249	HP:0001249	Intellectual disability	0	BBS5 CL E G H	129880	110				ORPHA	1	31	86	970	603650
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	110				ORPHA	1	44	175	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS7 CL E G H	55212	615984	Bardet-Biedl syndrome 7	615984	C1859565	OMIM	1	44	175	18758	607590
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	110				ORPHA	1	53	292	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BBS9 CL E G H	27241	615986	Bardet-Biedl syndrome 9	615986	C1859567	OMIM	1	53	292	30000	607968
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	101	255	986	608348
HP:0001249	HP:0001249	Intellectual disability	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	115	319	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	6	75	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	32	87	13221	606557
HP:0001249	HP:0001249	Intellectual disability	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	65	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	12	65	13222	606558
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	55	415	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0001249	HP:0001249	Intellectual disability	0	BCR CL E G H	613	261330				ORPHA	1	2	211	1014	151410
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	174	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	174	1020	603647
HP:0001249	HP:0001249	Intellectual disability	0	BDNF CL E G H	627	893				ORPHA	1	35	43	1033	113505
HP:0001249	HP:0001249	Intellectual disability	0	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	319	354	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	14	80	3581	601819
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	490	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	490	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	68	490	1097	164757
HP:0001249	HP:0001249	Intellectual disability	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	68	490	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	18	482	21701	614506
HP:0001249	HP:0001249	Intellectual disability	0	BRCA1 CL E G H	672	84				ORPHA	1	2824	11498	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	2824	11498	1100	113705
HP:0001249	HP:0001249	Intellectual disability	0	BRCA2 CL E G H	675	84				ORPHA	1	3025	12706	1101	600185
HP:0001249	HP:0001249	Intellectual disability	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	17	123	11551	604902
HP:0001249	HP:0001249	Intellectual disability	0	BRIP1 CL E G H	83990	84				ORPHA	1	202	3050	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	18	115	14255	602410
HP:0001249	HP:0001249	Intellectual disability	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	50	263	15832	606158
HP:0001249	HP:0001249	Intellectual disability	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	24	114	16512	606412
HP:0001249	HP:0001249	Intellectual disability	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	20	85	1148	602452
HP:0001249	HP:0001249	Intellectual disability	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	29	323	1149	602860
HP:0001249	HP:0001249	Intellectual disability	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	6	49	1151	603719
HP:0001249	HP:0001249	Intellectual disability	0	C12orf57 CL E G H	113246	1777				ORPHA	1	8	125	29521	615140
HP:0001249	HP:0001249	Intellectual disability	0	C8orf37 CL E G H	157657	110				ORPHA	1	17	119	27232	614477
HP:0001249	HP:0001249	Intellectual disability	0	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	17	119	27232	614477
HP:0001249	HP:0001249	Intellectual disability	0	CA2 CL E G H	760	2785				ORPHA	1	31	76	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	31	76	1373	611492
HP:0001249	HP:0001249	Intellectual disability	0	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	10	85	1375	114760
HP:0001249	HP:0001249	Intellectual disability	0	CA8 CL E G H	767	1766				ORPHA	1	4	45	1382	114815
HP:0001249	HP:0001249	Intellectual disability	0	CACNA1A CL E G H	773	442835				ORPHA	1	251	1393	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	251	1393	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	12	167	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	16	35	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	11	49	1461	607707
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	1425	Cole-Carpenter syndrome		C1862178	ORPHA	1	28	166	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	28	166	19721	613165
HP:0001249	HP:0001249	Intellectual disability	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	119	446	1497	300172
HP:0001249	HP:0001249	Intellectual disability	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	13	62	1527	601047
HP:0001249	HP:0001249	Intellectual disability	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	15	94	9688	603198
HP:0001249	HP:0001249	Intellectual disability	0	CBS CL E G H	875	394				ORPHA	1	214	611	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	214	611	1550	613381
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	2318				ORPHA	1	96	584	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CC2D2A CL E G H	57545	612285	Joubert syndrome 9	612285	C2676788	OMIM	1	96	584	29253	612013
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	13	305	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	13	305	29426	612753
HP:0001249	HP:0001249	Intellectual disability	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	7	221	28909	300859
HP:0001249	HP:0001249	Intellectual disability	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1	11	192	19967	611204
HP:0001249	HP:0001249	Intellectual disability	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	3	47	16892	606037
HP:0001249	HP:0001249	Intellectual disability	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	11	33	1736	116952
HP:0001249	HP:0001249	Intellectual disability	0	CDCA7 CL E G H	83879	2268				ORPHA	1	6	46	14628	609937
HP:0001249	HP:0001249	Intellectual disability	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	10	40	1750	600023
HP:0001249	HP:0001249	Intellectual disability	0	CDH23 CL E G H	64072	231169				ORPHA	1	361	1437	13733	605516
HP:0001249	HP:0001249	Intellectual disability	0	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	49	346	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	22	125	1733	603309
HP:0001249	HP:0001249	Intellectual disability	0	CDKL5 CL E G H	6792	3095				ORPHA	1	388	1046	11411	300203
HP:0001249	HP:0001249	Intellectual disability	0	CDON CL E G H	50937	280200				ORPHA	1	13	391	17104	608707
HP:0001249	HP:0001249	Intellectual disability	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	4	100	1856	117143
HP:0001249	HP:0001249	Intellectual disability	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	10	285	17272	609279
HP:0001249	HP:0001249	Intellectual disability	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	7	152	24866	616690
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	220493				ORPHA	1	9	87	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	9	87	26690	613446
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	20	252	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	20	252	29298	613529
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	2318				ORPHA	1	310	884	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	110				ORPHA	1	310	884	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	615991	Bardet-Biedl syndrome 14	615991	C2673874	OMIM	1	310	884	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	310	884	29021	610142
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	220493				ORPHA	1	11	232	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	11	232	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	11	232	12370	610523
HP:0001249	HP:0001249	Intellectual disability	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	5	155	30794	607951
HP:0001249	HP:0001249	Intellectual disability	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	2	93	25815	614724
HP:0001249	HP:0001249	Intellectual disability	0	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	39	250	21699	608381
HP:0001249	HP:0001249	Intellectual disability	0	CERS1 CL E G H	10715	616230	Epilepsy, progressive myoclonic 8	616230	C4015619	OMIM	1	1	149	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	17	168	20311	616327
HP:0001249	HP:0001249	Intellectual disability	0	CHAT CL E G H	1103	98914				ORPHA	1	77	374	1912	118490
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	529965				ORPHA	1	8	39	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	8	39	1915	602118
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	2382				ORPHA	1	60	793	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	60	793	1917	602119
HP:0001249	HP:0001249	Intellectual disability	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	23	134	1919	603277
HP:0001249	HP:0001249	Intellectual disability	0	CHD7 CL E G H	55636	138				ORPHA	1	884	1266	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	27	282	1938	612395
HP:0001249	HP:0001249	Intellectual disability	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	106	8740	164010
HP:0001249	HP:0001249	Intellectual disability	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	57	303	1960	118511
HP:0001249	HP:0001249	Intellectual disability	0	CIB2 CL E G H	10518	231169				ORPHA	1	18	65	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	10	132	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	15	113	1985	605629
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	42	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	7	42	26877	616174
HP:0001249	HP:0001249	Intellectual disability	0	CLCN4 CL E G H	1183	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	18	334	2022	302910
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	6	105	2026	602024
HP:0001249	HP:0001249	Intellectual disability	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	152	166	2027	602023
HP:0001249	HP:0001249	Intellectual disability	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	174	2586	603432
HP:0001249	HP:0001249	Intellectual disability	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	73	493	2074	607042
HP:0001249	HP:0001249	Intellectual disability	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	52	352	2076	608102
HP:0001249	HP:0001249	Intellectual disability	0	CLN8 CL E G H	2055	1947				ORPHA	1	44	352	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	44	352	2079	607837
HP:0001249	HP:0001249	Intellectual disability	0	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	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	25	217	30664	616254
HP:0001249	HP:0001249	Intellectual disability	0	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	39	175	12605	606397
HP:0001249	HP:0001249	Intellectual disability	0	CLTC CL E G H	1213	442835				ORPHA	1	14	62	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	14	62	2092	118955
HP:0001249	HP:0001249	Intellectual disability	0	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	33	167	2148	123825
HP:0001249	HP:0001249	Intellectual disability	0	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	62	420	2151	600724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	6	214	19701	300724
HP:0001249	HP:0001249	Intellectual disability	0	CNKSR2 CL E G H	22866	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	6	214	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	7	131	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	78	1068	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	7	19	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	13	219	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	10	189	18621	606977
HP:0001249	HP:0001249	Intellectual disability	0	COG6 CL E G H	57511	615328	Shaheen syndrome	615328	C3809160	OMIM	1	10	189	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	7	122	18623	606979
HP:0001249	HP:0001249	Intellectual disability	0	COL13A1 CL E G H	1305	98914				ORPHA	1	3	68	2190	120350
HP:0001249	HP:0001249	Intellectual disability	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	645	1647	2201	120180
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	899				ORPHA	1	114	498	2202	120130
HP:0001249	HP:0001249	Intellectual disability	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	114	498	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	8		2205	604677
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	293843				ORPHA	1	4	53	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0001249	HP:0001249	Intellectual disability	0	COLEC11 CL E G H	78989	293843				ORPHA	1	13	59	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	33	102	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	13	208	2260	602125
HP:0001249	HP:0001249	Intellectual disability	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	208	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	1	14	28216	614478
HP:0001249	HP:0001249	Intellectual disability	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	188	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	1	127	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	3	34	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	1	12	2294	123870
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	118	594	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	118	594	25801	614571
HP:0001249	HP:0001249	Intellectual disability	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	118	594	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	3	143	2309	605032
HP:0001249	HP:0001249	Intellectual disability	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	276	445	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	7	33	2340	603454
HP:0001249	HP:0001249	Intellectual disability	0	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	347	544	2343	604210
HP:0001249	HP:0001249	Intellectual disability	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0001249	HP:0001249	Intellectual disability	0	CRKL CL E G H	1399	261330				ORPHA	1	16	376	2363	602007
HP:0001249	HP:0001249	Intellectual disability	0	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	107	298	2383	602225
HP:0001249	HP:0001249	Intellectual disability	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	20	102	2457	115440
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	27	257	26193	611654
HP:0001249	HP:0001249	Intellectual disability	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	257	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	18	96	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	1	247	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	54	180	2514	116806
HP:0001249	HP:0001249	Intellectual disability	0	CTSA CL E G H	5476	351				ORPHA	1	39	119	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	40	247	2555	300304
HP:0001249	HP:0001249	Intellectual disability	0	CUX2 CL E G H	23316	2382				ORPHA	1	3	48	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	7	53	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	5	53	25613	616120
HP:0001249	HP:0001249	Intellectual disability	0	CXorf56 CL E G H	63932	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	1	166	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	1	166	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	75	85	2873	613213
HP:0001249	HP:0001249	Intellectual disability	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	3	42	13760	606323
HP:0001249	HP:0001249	Intellectual disability	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	44	130	2602	126065
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	909				ORPHA	1	116	303	2605	606530
HP:0001249	HP:0001249	Intellectual disability	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	116	303	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	33	299	28358	609186
HP:0001249	HP:0001249	Intellectual disability	0	DAG1 CL E G H	1605	899				ORPHA	1	11	301	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	11	301	2666	128239
HP:0001249	HP:0001249	Intellectual disability	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	78	340	2698	248610
HP:0001249	HP:0001249	Intellectual disability	0	DCAF17 CL E G H	80067	3464				ORPHA	1	18	175	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	18	175	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	41	123	2701	120470
HP:0001249	HP:0001249	Intellectual disability	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	180	13681	603057
HP:0001249	HP:0001249	Intellectual disability	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	142	330	2714	300121
HP:0001249	HP:0001249	Intellectual disability	0	DDHD2 CL E G H	23259	320380				ORPHA	1	19	152	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	19	152	29106	615003
HP:0001249	HP:0001249	Intellectual disability	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	7	97	2736	601150
HP:0001249	HP:0001249	Intellectual disability	0	DDX3X CL E G H	1654	457260				ORPHA	1	78	337	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	78	337	2745	300160
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	2919				ORPHA	1	6	34	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DDX59 CL E G H	83479	174300	Orofaciodigital syndrome 5	174300	C1868118	OMIM	1	6	34	25360	615464
HP:0001249	HP:0001249	Intellectual disability	0	DEAF1 CL E G H	10522	819				ORPHA	1	17	129	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	17	129	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	17	129	14677	602635
HP:0001249	HP:0001249	Intellectual disability	0	DHCR24 CL E G H	1718	35107				ORPHA	1	10	137	2859	606418
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	818				ORPHA	1	218	376	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	376	2860	602858
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	442835				ORPHA	1	8	122	20603	608172
HP:0001249	HP:0001249	Intellectual disability	0	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	8	122	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	8	122	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	6	24	16716	616423
HP:0001249	HP:0001249	Intellectual disability	0	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	2	141	17211	605584
HP:0001249	HP:0001249	Intellectual disability	0	DIP2B CL E G H	57609	136630	Mental retardation, fra12a type	136630	C1969893	OMIM	1	3	35	29284	611379
HP:0001249	HP:0001249	Intellectual disability	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	14	881	28648	614184
HP:0001249	HP:0001249	Intellectual disability	0	DISP1 CL E G H	84976	280200				ORPHA	1	11	100	19711	607502
HP:0001249	HP:0001249	Intellectual disability	0	DKC1 CL E G H	1736	3322				ORPHA	1	75	322	2890	300126
HP:0001249	HP:0001249	Intellectual disability	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0001249	HP:0001249	Intellectual disability	0	DLG3 CL E G H	1741	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	17	196	2902	300189
HP:0001249	HP:0001249	Intellectual disability	0	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	17	196	2902	300189
HP:0001249	HP:0001249	Intellectual disability	0	DLL1 CL E G H	28514	280200				ORPHA	1	19	132	2908	606582
HP:0001249	HP:0001249	Intellectual disability	0	DMD CL E G H	1756	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	3970	3760	2928	300377
HP:0001249	HP:0001249	Intellectual disability	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	8	146	2939	601810
HP:0001249	HP:0001249	Intellectual disability	0	DNAJC19 CL E G H	131118	610198	3-methylglutaconic aciduria type V	610198	C1857776	OMIM	1	6	55	30528	608977
HP:0001249	HP:0001249	Intellectual disability	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	11	60	27030	617048
HP:0001249	HP:0001249	Intellectual disability	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	14	83	15469	608375
HP:0001249	HP:0001249	Intellectual disability	0	DNM1 CL E G H	1759	2382				ORPHA	1	31	324	2972	602377
HP:0001249	HP:0001249	Intellectual disability	0	DNM1 CL E G H	1759	442835				ORPHA	1	31	324	2972	602377
HP:0001249	HP:0001249	Intellectual disability	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	31	324	2972	602377
HP:0001249	HP:0001249	Intellectual disability	0	DNMT3A CL E G H	1788	615879	Tatton-Brown-rahman syndrome	615879	C4014545	OMIM	1	51	168	2978	602769
HP:0001249	HP:0001249	Intellectual disability	0	DNMT3B CL E G H	1789	2268				ORPHA	1	57	267	2979	602900
HP:0001249	HP:0001249	Intellectual disability	0	DNMT3B CL E G H	1789	242860	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	242860	C0398788	OMIM	1	57	267	2979	602900
HP:0001249	HP:0001249	Intellectual disability	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	42	157	2995	191350
HP:0001249	HP:0001249	Intellectual disability	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	42	157	2995	191350
HP:0001249	HP:0001249	Intellectual disability	0	DPF2 CL E G H	5977	1465				ORPHA	1	9	14	9964	601671
HP:0001249	HP:0001249	Intellectual disability	0	DPF2 CL E G H	5977	618027	COFFIN-SIRIS SYNDROME 7	618027	CN248780	OMIM	1	9	14	9964	601671
HP:0001249	HP:0001249	Intellectual disability	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	6	92	3003	603527
HP:0001249	HP:0001249	Intellectual disability	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	11	81	3010	126141
HP:0001249	HP:0001249	Intellectual disability	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001249	HP:0001249	Intellectual disability	0	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	30	108	3013	613326
HP:0001249	HP:0001249	Intellectual disability	0	DUOX2 CL E G H	50506	95716				ORPHA	1	185	306	13273	606759
HP:0001249	HP:0001249	Intellectual disability	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	18	54	32698	612772
HP:0001249	HP:0001249	Intellectual disability	0	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	18	54	32698	612772
HP:0001249	HP:0001249	Intellectual disability	0	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	1	19	244	3084	601365
HP:0001249	HP:0001249	Intellectual disability	0	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	1	15	77	3087	601368
HP:0001249	HP:0001249	Intellectual disability	0	DYM CL E G H	54808	239				ORPHA	1	37	124	21317	607461
HP:0001249	HP:0001249	Intellectual disability	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	1	77	1453	2961	600112
HP:0001249	HP:0001249	Intellectual disability	0	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	26	147	19087	607407
HP:0001249	HP:0001249	Intellectual disability	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	91	237	3133	300205
HP:0001249	HP:0001249	Intellectual disability	0	EED CL E G H	8726	3447				ORPHA	1	9	49	3188	605984
HP:0001249	HP:0001249	Intellectual disability	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	49	3188	605984
HP:0001249	HP:0001249	Intellectual disability	0	EEF1A2 CL E G H	1917	442835				ORPHA	1	12	260	3192	602959
HP:0001249	HP:0001249	Intellectual disability	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	3	57	25789	617538
HP:0001249	HP:0001249	Intellectual disability	0	EFNB1 CL E G H	1947	1520				ORPHA	1	118	181	3226	300035
HP:0001249	HP:0001249	Intellectual disability	0	EFTUD2 CL E G H	9343	79113				ORPHA	1	101	124	30858	603892
HP:0001249	HP:0001249	Intellectual disability	0	EHMT1 CL E G H	79813	96147				ORPHA	1	94	746	24650	607001
HP:0001249	HP:0001249	Intellectual disability	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	81	125	3255	604032
HP:0001249	HP:0001249	Intellectual disability	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	5	178	3267	300161
HP:0001249	HP:0001249	Intellectual disability	0	ELMO2 CL E G H	63916	3019	Intracranial aneurysms multiple congenital anomaly			ORPHA	1	5	20	17233	606421
HP:0001249	HP:0001249	Intellectual disability	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	523	3327	130160
HP:0001249	HP:0001249	Intellectual disability	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	127	523	3327	130160
HP:0001249	HP:0001249	Intellectual disability	0	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	7	120	28957	616846
HP:0001249	HP:0001249	Intellectual disability	0	ENTPD1 CL E G H	953	615683	Spastic paraplegia 64, autosomal recessive	615683	C3810289	OMIM	1	6	53	3363	601752
HP:0001249	HP:0001249	Intellectual disability	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0001249	HP:0001249	Intellectual disability	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	68	495	29331	615068
HP:0001249	HP:0001249	Intellectual disability	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0001249	HP:0001249	Intellectual disability	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	108	227	3434	126340
HP:0001249	HP:0001249	Intellectual disability	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	227	3434	126340
HP:0001249	HP:0001249	Intellectual disability	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0001249	HP:0001249	Intellectual disability	0	ERCC3 CL E G H	2071	616390	Trichothiodystrophy 2, photosensitive	616390	C4225344	OMIM	1	20	122	3435	133510
HP:0001249	HP:0001249	Intellectual disability	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	20	122	3435	133510
HP:0001249	HP:0001249	Intellectual disability	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0001249	HP:0001249	Intellectual disability	0	ERCC4 CL E G H	2072	84				ORPHA	1	72	348	3436	133520
HP:0001249	HP:0001249	Intellectual disability	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0001249	HP:0001249	Intellectual disability	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	499	3438	609413
HP:0001249	HP:0001249	Intellectual disability	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	140	499	3438	609413
HP:0001249	HP:0001249	Intellectual disability	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	499	3438	609413
HP:0001249	HP:0001249	Intellectual disability	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	70	199	3439	609412
HP:0001249	HP:0001249	Intellectual disability	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	15	103	1356	611605
HP:0001249	HP:0001249	Intellectual disability	0	ESCO2 CL E G H	157570	3103				ORPHA	1	31	215	27230	609353
HP:0001249	HP:0001249	Intellectual disability	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	31	215	27230	609353
HP:0001249	HP:0001249	Intellectual disability	0	ETHE1 CL E G H	23474	51188				ORPHA	1	37	127	23287	608451
HP:0001249	HP:0001249	Intellectual disability	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	37	127	23287	608451
HP:0001249	HP:0001249	Intellectual disability	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	1	532	409	3512	608177
HP:0001249	HP:0001249	Intellectual disability	0	EXTL3 CL E G H	2137	617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	617425	C4479452	OMIM	1	9	97	3518	605744
HP:0001249	HP:0001249	Intellectual disability	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	221	290	3519	601653
HP:0001249	HP:0001249	Intellectual disability	0	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	338	1064	21555	612424
HP:0001249	HP:0001249	Intellectual disability	0	EZH2 CL E G H	2146	3447				ORPHA	1	42	235	3527	601573
HP:0001249	HP:0001249	Intellectual disability	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	42	235	3527	601573
HP:0001249	HP:0001249	Intellectual disability	0	FA2H CL E G H	79152	171629				ORPHA	1	54	194	21197	611026
HP:0001249	HP:0001249	Intellectual disability	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	54	194	21197	611026
HP:0001249	HP:0001249	Intellectual disability	0	FAM126A CL E G H	84668	610532	Hypomyelination and Congenital Cataract	610532	C1864663	OMIM	1	12	191	24587	610531
HP:0001249	HP:0001249	Intellectual disability	0	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	20	207	25808	613596
HP:0001249	HP:0001249	Intellectual disability	0	FANCA CL E G H	2175	84				ORPHA	1	689	1706	3582	607139
HP:0001249	HP:0001249	Intellectual disability	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	689	1706	3582	607139
HP:0001249	HP:0001249	Intellectual disability	0	FANCB CL E G H	2187	84				ORPHA	1	21	352	3583	300515
HP:0001249	HP:0001249	Intellectual disability	0	FANCB CL E G H	2187	3412				ORPHA	1	21	352	3583	300515
HP:0001249	HP:0001249	Intellectual disability	0	FANCC CL E G H	2176	84				ORPHA	1	65	882	3584	613899
HP:0001249	HP:0001249	Intellectual disability	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	65	882	3584	613899
HP:0001249	HP:0001249	Intellectual disability	0	FANCD2 CL E G H	2177	84				ORPHA	1	64	429	3585	613984
HP:0001249	HP:0001249	Intellectual disability	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	64	429	3585	613984
HP:0001249	HP:0001249	Intellectual disability	0	FANCE CL E G H	2178	84				ORPHA	1	17	201	3586	613976
HP:0001249	HP:0001249	Intellectual disability	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	17	201	3586	613976
HP:0001249	HP:0001249	Intellectual disability	0	FANCF CL E G H	2188	84				ORPHA	1	16	202	3587	613897
HP:0001249	HP:0001249	Intellectual disability	0	FANCG CL E G H	2189	84				ORPHA	1	92	325	3588	602956
HP:0001249	HP:0001249	Intellectual disability	0	FANCI CL E G H	55215	84				ORPHA	1	45	521	25568	611360
HP:0001249	HP:0001249	Intellectual disability	0	FANCL CL E G H	55120	84				ORPHA	1	24	176	20748	608111
HP:0001249	HP:0001249	Intellectual disability	0	FANCM CL E G H	57697	84				ORPHA	1	53	697	23168	609644
HP:0001249	HP:0001249	Intellectual disability	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	40	26222	616107
HP:0001249	HP:0001249	Intellectual disability	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	235	29160	612322
HP:0001249	HP:0001249	Intellectual disability	0	FAT4 CL E G H	79633	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	1	37	317	23109	612411
HP:0001249	HP:0001249	Intellectual disability	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	317	23109	612411
HP:0001249	HP:0001249	Intellectual disability	0	FBN1 CL E G H	2200	2462				ORPHA	1	2721	4284	3603	134797
HP:0001249	HP:0001249	Intellectual disability	0	FBXO11 CL E G H	80204	618089	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	618089	CN252702	OMIM	1	26	77	13590	607871
HP:0001249	HP:0001249	Intellectual disability	0	FBXO31 CL E G H	79791	615979	Mental retardation, autosomal recessive 45	615979	C4014864	OMIM	1	3	82	16510	609102
HP:0001249	HP:0001249	Intellectual disability	0	FGF12 CL E G H	2257	442835				ORPHA	1	10	74	3668	601513
HP:0001249	HP:0001249	Intellectual disability	0	FGF8 CL E G H	2253	280200				ORPHA	1	41	54	3686	600483
HP:0001249	HP:0001249	Intellectual disability	0	FGFR1 CL E G H	2260	2396				ORPHA	1	265	388	3688	136350
HP:0001249	HP:0001249	Intellectual disability	0	FGFR1 CL E G H	2260	280200				ORPHA	1	265	388	3688	136350
HP:0001249	HP:0001249	Intellectual disability	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	265	388	3688	136350
HP:0001249	HP:0001249	Intellectual disability	0	FGFR1 CL E G H	2260	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	265	388	3688	136350
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	93260				ORPHA	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	87				ORPHA	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	93259				ORPHA	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	101200	Acrocephalosyndactyly type I	101200	C0001193	OMIM	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	207410	C2936791	OMIM	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	101600	Pfeiffer syndrome	101600	C1863356	OMIM	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR2 CL E G H	2263	609579	Scaphocephaly, maxillary retrusion, and mental retardation	609579	C1865070	OMIM	1	159	336	3689	176943
HP:0001249	HP:0001249	Intellectual disability	0	FGFR3 CL E G H	2261	610474	Camptodactyly, tall stature, and hearing loss syndrome	610474	C1864852	OMIM	1	77	431	3690	134934
HP:0001249	HP:0001249	Intellectual disability	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	77	431	3690	134934
HP:0001249	HP:0001249	Intellectual disability	0	FGFR3 CL E G H	2261	616482	Severe achondroplasia with developmental delay and acanthosis nigricans	616482	C2674173	OMIM	1	77	431	3690	134934
HP:0001249	HP:0001249	Intellectual disability	0	FKRP CL E G H	79147	899				ORPHA	1	141	402	17997	606596
HP:0001249	HP:0001249	Intellectual disability	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	141	402	17997	606596
HP:0001249	HP:0001249	Intellectual disability	0	FKTN CL E G H	2218	899				ORPHA	1	59	450	3622	607440
HP:0001249	HP:0001249	Intellectual disability	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	59	450	3622	607440
HP:0001249	HP:0001249	Intellectual disability	0	FLI1 CL E G H	2313	851	Bellini Chiumello Rimoldi syndrome			ORPHA	1	7	125	3749	193067
HP:0001249	HP:0001249	Intellectual disability	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	7	125	3749	193067
HP:0001249	HP:0001249	Intellectual disability	0	FLII CL E G H	2314	819				ORPHA	1	2	153	3750	600362
HP:0001249	HP:0001249	Intellectual disability	0	FLNA CL E G H	2316	90652				ORPHA	1	271	1472	3754	300017
HP:0001249	HP:0001249	Intellectual disability	0	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1472	3754	300017
HP:0001249	HP:0001249	Intellectual disability	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	271	1472	3754	300017
HP:0001249	HP:0001249	Intellectual disability	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	122	520	3755	603381
HP:0001249	HP:0001249	Intellectual disability	0	FLVCR1 CL E G H	28982	88628				ORPHA	1	17	255	24682	609144
HP:0001249	HP:0001249	Intellectual disability	0	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	1	9	164	14074	606373
HP:0001249	HP:0001249	Intellectual disability	0	FOLR1 CL E G H	2348	613068	Cerebral folate deficiency	613068	C2751584	OMIM	1	28	115	3791	136430
HP:0001249	HP:0001249	Intellectual disability	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	2	28	3796	164810
HP:0001249	HP:0001249	Intellectual disability	0	FOXE1 CL E G H	2304	1226	Cervical hypertrichosis peripheral neuropathy			ORPHA	1	31	48	3806	602617
HP:0001249	HP:0001249	Intellectual disability	0	FOXG1 CL E G H	2290	3095				ORPHA	1	169	357	3811	164874
HP:0001249	HP:0001249	Intellectual disability	0	FOXH1 CL E G H	8928	280200				ORPHA	1	33	188	3814	603621
HP:0001249	HP:0001249	Intellectual disability	0	FOXI1 CL E G H	2299	274600	Pendred's syndrome	274600	C0271829	OMIM	1	11	83	3815	601093
HP:0001249	HP:0001249	Intellectual disability	0	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	76	241	3823	605515
HP:0001249	HP:0001249	Intellectual disability	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	61	675	19185	607830
HP:0001249	HP:0001249	Intellectual disability	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	2	119	3954	601278
HP:0001249	HP:0001249	Intellectual disability	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	53	25491	616305
HP:0001249	HP:0001249	Intellectual disability	0	FRMPD4 CL E G H	9758	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	6	265	29007	300838
HP:0001249	HP:0001249	Intellectual disability	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	6	265	29007	300838
HP:0001249	HP:0001249	Intellectual disability	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	6	164	1362	604574
HP:0001249	HP:0001249	Intellectual disability	0	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	15	167	3960	607643
HP:0001249	HP:0001249	Intellectual disability	0	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	15	203	3974	606806
HP:0001249	HP:0001249	Intellectual disability	0	FTSJ1 CL E G H	24140	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	10	206	13254	300499
HP:0001249	HP:0001249	Intellectual disability	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	34	109	4006	612280
HP:0001249	HP:0001249	Intellectual disability	0	FUT8 CL E G H	2530	618005	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION	618005	CN248517	OMIM	1	5	28	4019	602589
HP:0001249	HP:0001249	Intellectual disability	0	GABBR2 CL E G H	9568	3095				ORPHA	1	8	209	4507	607340
HP:0001249	HP:0001249	Intellectual disability	0	GABBR2 CL E G H	9568	617904	Early infantile epileptic encephalopathy 59	617904	CN870853	OMIM	1	8	209	4507	607340
HP:0001249	HP:0001249	Intellectual disability	0	GABBR2 CL E G H	9568	617903	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	617903	CN870852	OMIM	1	8	209	4507	607340
HP:0001249	HP:0001249	Intellectual disability	0	GABRA1 CL E G H	2554	615744	Epileptic encephalopathy, early infantile, 19	615744	C3810400	OMIM	1	48	336	4075	137160
HP:0001249	HP:0001249	Intellectual disability	0	GABRB2 CL E G H	2561	442835				ORPHA	1	16	212	4082	600232
HP:0001249	HP:0001249	Intellectual disability	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	16	212	4082	600232
HP:0001249	HP:0001249	Intellectual disability	0	GABRB3 CL E G H	2562	2382				ORPHA	1	67	526	4083	137192
HP:0001249	HP:0001249	Intellectual disability	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	67	526	4083	137192
HP:0001249	HP:0001249	Intellectual disability	0	GABRD CL E G H	2563	1606				ORPHA	1	7	278	4084	137163
HP:0001249	HP:0001249	Intellectual disability	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	7	102	4092	605363
HP:0001249	HP:0001249	Intellectual disability	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	27	112	4116	606953
HP:0001249	HP:0001249	Intellectual disability	0	GALT CL E G H	2592	79239				ORPHA	1	337	555	4135	606999
HP:0001249	HP:0001249	Intellectual disability	0	GALT CL E G H	2592	230400	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	230400	C0268151	OMIM	1	337	555	4135	606999
HP:0001249	HP:0001249	Intellectual disability	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	60	274	4136	601240
HP:0001249	HP:0001249	Intellectual disability	0	GAN CL E G H	8139	643				ORPHA	1	80	435	4137	605379
HP:0001249	HP:0001249	Intellectual disability	0	GAS1 CL E G H	2619	280200				ORPHA	1	6	42	4165	139185
HP:0001249	HP:0001249	Intellectual disability	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	15	235	4170	305371
HP:0001249	HP:0001249	Intellectual disability	0	GATA6 CL E G H	2627	2255	Familial non-immune hyperthyroidism			ORPHA	1	85	172	4174	601656
HP:0001249	HP:0001249	Intellectual disability	0	GATM CL E G H	2628	612718	Arginine:glycine amidinotransferase deficiency	612718	C2675179	OMIM	1	22	212	4175	602360
HP:0001249	HP:0001249	Intellectual disability	0	GBE1 CL E G H	2632	206583				ORPHA	1	74	231	4180	607839
HP:0001249	HP:0001249	Intellectual disability	0	GCK CL E G H	2645	602485	Hyperinsulinemic hypoglycemia familial 3	602485	C1865290	OMIM	1	848	470	4195	138079
HP:0001249	HP:0001249	Intellectual disability	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2	105	4208	238330
HP:0001249	HP:0001249	Intellectual disability	0	GDI1 CL E G H	2664	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	12	252	4226	300104
HP:0001249	HP:0001249	Intellectual disability	0	GDI1 CL E G H	2664	300849	X-Linked Mental Retardation 41	300849	C3887939	OMIM	1	12	252	4226	300104
HP:0001249	HP:0001249	Intellectual disability	0	GGT1 CL E G H	2678	231950	gamma-Glutamyltransferase deficiency	231950	C0268524	OMIM	1	1	90	4250	612346
HP:0001249	HP:0001249	Intellectual disability	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	109	141	4274	121014
HP:0001249	HP:0001249	Intellectual disability	0	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	37	350	4279	121013
HP:0001249	HP:0001249	Intellectual disability	0	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	63	347	4281	600897
HP:0001249	HP:0001249	Intellectual disability	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001249	HP:0001249	Intellectual disability	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	231	308	4298	611458
HP:0001249	HP:0001249	Intellectual disability	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	426	785	4313	238300
HP:0001249	HP:0001249	Intellectual disability	0	GLI2 CL E G H	2736	280200				ORPHA	1	88	372	4318	165230
HP:0001249	HP:0001249	Intellectual disability	0	GLUD1 CL E G H	2746	606762	Hyperinsulinism-hyperammonemia syndrome	606762	C1847555	OMIM	1	38	143	4335	138130
HP:0001249	HP:0001249	Intellectual disability	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0001249	HP:0001249	Intellectual disability	0	GMNN CL E G H	51053	616835	Meier-gorlin syndrome 6	616835	C4225188	OMIM	1	3	21	17493	602842
HP:0001249	HP:0001249	Intellectual disability	0	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	1	12	74	22923	615495
HP:0001249	HP:0001249	Intellectual disability	0	GMPPB CL E G H	29925	363623				ORPHA	1	49	151	22932	615320
HP:0001249	HP:0001249	Intellectual disability	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	49	151	22932	615320
HP:0001249	HP:0001249	Intellectual disability	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	35	154	4389	139311
HP:0001249	HP:0001249	Intellectual disability	0	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	6	58	4390	600998
HP:0001249	HP:0001249	Intellectual disability	0	GNAQ CL E G H	2776	185300	Sturge-Weber syndrome	185300	C0038505	OMIM	1	6	58	4390	600998
HP:0001249	HP:0001249	Intellectual disability	0	GNAS CL E G H	2778	79444				ORPHA	1	279	216	4392	139320
HP:0001249	HP:0001249	Intellectual disability	0	GNAS CL E G H	2778	79443				ORPHA	1	279	216	4392	139320
HP:0001249	HP:0001249	Intellectual disability	0	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	279	216	4392	139320
HP:0001249	HP:0001249	Intellectual disability	0	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	279	216	4392	139320
HP:0001249	HP:0001249	Intellectual disability	0	GNB1 CL E G H	2782	488613				ORPHA	1	24	184	4396	139380
HP:0001249	HP:0001249	Intellectual disability	0	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	24	184	4396	139380
HP:0001249	HP:0001249	Intellectual disability	0	GNB5 CL E G H	10681	617173	Intellectual developmental disorder with cardiac arrhythmia	617173	C4310682	OMIM	1	10	47	4401	604447
HP:0001249	HP:0001249	Intellectual disability	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	16	144	4416	602744
HP:0001249	HP:0001249	Intellectual disability	0	GNPTAB CL E G H	79158	252600	Pseudo-Hurler polydystrophy	252600	C0033788	OMIM	1	188	462	29670	607840
HP:0001249	HP:0001249	Intellectual disability	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	25	146	4422	607664
HP:0001249	HP:0001249	Intellectual disability	0	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	16	108	25676	607983
HP:0001249	HP:0001249	Intellectual disability	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	11	77	4446	603048
HP:0001249	HP:0001249	Intellectual disability	0	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	42	45	4458	172400
HP:0001249	HP:0001249	Intellectual disability	0	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	1	16	4539	607468
HP:0001249	HP:0001249	Intellectual disability	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	10	58	18062	138210
HP:0001249	HP:0001249	Intellectual disability	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	10	58	18062	138210
HP:0001249	HP:0001249	Intellectual disability	0	GRIA3 CL E G H	2892	300699	Mental retardation, X-linked, syndromic, wu type	300699	C2678051	OMIM	1	24	243	4573	305915
HP:0001249	HP:0001249	Intellectual disability	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	5	33	4574	138246
HP:0001249	HP:0001249	Intellectual disability	0	GRIK2 CL E G H	2898	611092	Mental retardation, autosomal recessive 6	611092	C1970198	OMIM	1	7	84	4580	138244
HP:0001249	HP:0001249	Intellectual disability	0	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	39	393	4584	138249
HP:0001249	HP:0001249	Intellectual disability	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	107	629	4586	138252
HP:0001249	HP:0001249	Intellectual disability	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	107	629	4586	138252
HP:0001249	HP:0001249	Intellectual disability	0	GRIN2D CL E G H	2906	442835				ORPHA	1	2	77	4588	602717
HP:0001249	HP:0001249	Intellectual disability	0	GRM1 CL E G H	2911	324262				ORPHA	1	20	118	4593	604473
HP:0001249	HP:0001249	Intellectual disability	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	20	118	4593	604473
HP:0001249	HP:0001249	Intellectual disability	0	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	40	88	4624	601002
HP:0001249	HP:0001249	Intellectual disability	0	GTF2H5 CL E G H	404672	616395	Trichothiodystrophy 3, photosensitive	616395	C4017171	OMIM	1	6	33	21157	608780
HP:0001249	HP:0001249	Intellectual disability	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	157	4659	601679
HP:0001249	HP:0001249	Intellectual disability	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	206	4661	604318
HP:0001249	HP:0001249	Intellectual disability	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	21	4670	607434
HP:0001249	HP:0001249	Intellectual disability	0	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7	107	4679	602275
HP:0001249	HP:0001249	Intellectual disability	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	243	388	4689	600179
HP:0001249	HP:0001249	Intellectual disability	0	GUSB CL E G H	2990	584	Al Gazali Donnai Mueller syndrome			ORPHA	1	66	157	4696	611499
HP:0001249	HP:0001249	Intellectual disability	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	157	4696	611499
HP:0001249	HP:0001249	Intellectual disability	0	HACE1 CL E G H	57531	464282				ORPHA	1	13	63	21033	610876
HP:0001249	HP:0001249	Intellectual disability	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	63	21033	610876
HP:0001249	HP:0001249	Intellectual disability	0	HADH CL E G H	3033	609975	Hyperinsulinemic hypoglycemia, familial, 4	609975	C1864948	OMIM	1	26	94	4799	601609
HP:0001249	HP:0001249	Intellectual disability	0	HBA1 CL E G H	3039	98791				ORPHA	1	217	346	4823	141800
HP:0001249	HP:0001249	Intellectual disability	0	HBA2 CL E G H	3040	98791				ORPHA	1	296	274	4824	141850
HP:0001249	HP:0001249	Intellectual disability	0	HCFC1 CL E G H	3054	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	18	486	4839	300019
HP:0001249	HP:0001249	Intellectual disability	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	18	486	4839	300019
HP:0001249	HP:0001249	Intellectual disability	0	HCN1 CL E G H	348980	442835				ORPHA	1	40	285	4845	602780
HP:0001249	HP:0001249	Intellectual disability	0	HCN1 CL E G H	348980	615871	Epileptic encephalopathy, early infantile, 24	615871	C4014531	OMIM	1	40	285	4845	602780
HP:0001249	HP:0001249	Intellectual disability	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	16	223	14063	605314
HP:0001249	HP:0001249	Intellectual disability	0	HDAC8 CL E G H	55869	3459				ORPHA	1	56	227	13315	300269
HP:0001249	HP:0001249	Intellectual disability	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	56	227	13315	300269
HP:0001249	HP:0001249	Intellectual disability	0	HELLS CL E G H	3070	2268				ORPHA	1	6	51	4861	603946
HP:0001249	HP:0001249	Intellectual disability	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	28	176	26361	611642
HP:0001249	HP:0001249	Intellectual disability	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	9	173	4867	605109
HP:0001249	HP:0001249	Intellectual disability	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	6	482	4868	605837
HP:0001249	HP:0001249	Intellectual disability	0	HESX1 CL E G H	8820	226307				ORPHA	1	27	46	4877	601802
HP:0001249	HP:0001249	Intellectual disability	0	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	72	371	26527	610453
HP:0001249	HP:0001249	Intellectual disability	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	72	371	26527	610453
HP:0001249	HP:0001249	Intellectual disability	0	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	4	48	18270	605743
HP:0001249	HP:0001249	Intellectual disability	0	HIST1H1E CL E G H	3008	617537	RAHMAN SYNDROME	617537	C4479637	OMIM	1	5		4718	142220
HP:0001249	HP:0001249	Intellectual disability	0	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	15	144	4921	143054
HP:0001249	HP:0001249	Intellectual disability	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	186	5004	300193
HP:0001249	HP:0001249	Intellectual disability	0	HNF1A CL E G H	6927	324575				ORPHA	1	539	343	11621	142410
HP:0001249	HP:0001249	Intellectual disability	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	157	283	5024	600281
HP:0001249	HP:0001249	Intellectual disability	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	4	35	5028	605238
HP:0001249	HP:0001249	Intellectual disability	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	4	174	5042	300610
HP:0001249	HP:0001249	Intellectual disability	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	15	71	5044	600712
HP:0001249	HP:0001249	Intellectual disability	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	68	321	5048	602869
HP:0001249	HP:0001249	Intellectual disability	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	428	272	5157	308000
HP:0001249	HP:0001249	Intellectual disability	0	HRAS CL E G H	3265	3071				ORPHA	1	34	295	5173	190020
HP:0001249	HP:0001249	Intellectual disability	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	34	295	5173	190020
HP:0001249	HP:0001249	Intellectual disability	0	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	1	34	295	5173	190020
HP:0001249	HP:0001249	Intellectual disability	0	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	34	295	5173	190020
HP:0001249	HP:0001249	Intellectual disability	0	HSD17B10 CL E G H	3028	85295				ORPHA	1	17	179	4800	300256
HP:0001249	HP:0001249	Intellectual disability	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	179	4800	300256
HP:0001249	HP:0001249	Intellectual disability	0	HSPG2 CL E G H	3339	800				ORPHA	1	67	862	5273	142461
HP:0001249	HP:0001249	Intellectual disability	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	862	5273	142461
HP:0001249	HP:0001249	Intellectual disability	0	HUWE1 CL E G H	10075	300706	Mental retardation, X-linked, syndromic, turner type	300706	C2678046	OMIM	1	54	429	30892	300697
HP:0001249	HP:0001249	Intellectual disability	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	2	122	26558	610693
HP:0001249	HP:0001249	Intellectual disability	0	HYMAI CL E G H	57061	99886				ORPHA	1		15	5326	606546
HP:0001249	HP:0001249	Intellectual disability	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1	15		5330	600709
HP:0001249	HP:0001249	Intellectual disability	0	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	4	102	5385	604526
HP:0001249	HP:0001249	Intellectual disability	0	IDUA CL E G H	3425	93473				ORPHA	1	291	622	5391	252800
HP:0001249	HP:0001249	Intellectual disability	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	622	5391	252800
HP:0001249	HP:0001249	Intellectual disability	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	28	286	18873	606951
HP:0001249	HP:0001249	Intellectual disability	0	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	72	530	29077	614620
HP:0001249	HP:0001249	Intellectual disability	0	IFT172 CL E G H	26160	110				ORPHA	1	27	269	30391	607386
HP:0001249	HP:0001249	Intellectual disability	0	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	27	269	30391	607386
HP:0001249	HP:0001249	Intellectual disability	0	IFT172 CL E G H	26160	615630	Short-rib thoracic dysplasia 10 with or without polydactyly	615630	C3810175	OMIM	1	27	269	30391	607386
HP:0001249	HP:0001249	Intellectual disability	0	IFT27 CL E G H	11020	110				ORPHA	1	4	52	18626	615870
HP:0001249	HP:0001249	Intellectual disability	0	IFT27 CL E G H	11020	615996	Bardet-Biedl syndrome 19	615996	C3889475	OMIM	1	4	52	18626	615870
HP:0001249	HP:0001249	Intellectual disability	0	IFT74 CL E G H	80173	617119	Bardet-Biedl syndrome 20	617119	C4310707	OMIM	1	4	100	21424	608040
HP:0001249	HP:0001249	Intellectual disability	0	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	6	55	20606	600595
HP:0001249	HP:0001249	Intellectual disability	0	IGBP1 CL E G H	3476	52055				ORPHA	1	2	142	5461	300139
HP:0001249	HP:0001249	Intellectual disability	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	142	5461	300139
HP:0001249	HP:0001249	Intellectual disability	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	13	167	5464	147440
HP:0001249	HP:0001249	Intellectual disability	0	IGF1R CL E G H	3480	73273				ORPHA	1	79	622	5465	147370
HP:0001249	HP:0001249	Intellectual disability	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	79	622	5465	147370
HP:0001249	HP:0001249	Intellectual disability	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	151	295	5961	300248
HP:0001249	HP:0001249	Intellectual disability	0	IL1RAPL1 CL E G H	11141	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	42	273	5996	300206
HP:0001249	HP:0001249	Intellectual disability	0	IMPA1 CL E G H	3612	617323	Mental retardation, autosomal recessive 59	617323	C4310619	OMIM	1	2	37	6050	602064
HP:0001249	HP:0001249	Intellectual disability	0	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	24	198	6052	146690
HP:0001249	HP:0001249	Intellectual disability	0	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	42	346	18362	607056
HP:0001249	HP:0001249	Intellectual disability	0	INPP5E CL E G H	56623	220493				ORPHA	1	54	325	21474	613037
HP:0001249	HP:0001249	Intellectual disability	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	54	325	21474	613037
HP:0001249	HP:0001249	Intellectual disability	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	325	21474	613037
HP:0001249	HP:0001249	Intellectual disability	0	INPP5K CL E G H	51763	559				ORPHA	1	10	136	33882	607875
HP:0001249	HP:0001249	Intellectual disability	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	10	136	33882	607875
HP:0001249	HP:0001249	Intellectual disability	0	IQSEC2 CL E G H	23096	819				ORPHA	1	57	539	29059	300522
HP:0001249	HP:0001249	Intellectual disability	0	IQSEC2 CL E G H	23096	217377				ORPHA	1	57	539	29059	300522
HP:0001249	HP:0001249	Intellectual disability	0	IQSEC2 CL E G H	23096	777	Arthrogryposis multiplex congenita		C0003886	ORPHA	1	57	539	29059	300522
HP:0001249	HP:0001249	Intellectual disability	0	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	57	539	29059	300522
HP:0001249	HP:0001249	Intellectual disability	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	11	45	14282	611720
HP:0001249	HP:0001249	Intellectual disability	0	ISPD CL E G H	729920	899				ORPHA	1		475	37276	614631
HP:0001249	HP:0001249	Intellectual disability	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	10	370	6143	600536
HP:0001249	HP:0001249	Intellectual disability	0	ITGB6 CL E G H	3694	2850				ORPHA	1	7	60	6161	147558
HP:0001249	HP:0001249	Intellectual disability	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	95	501	6180	147265
HP:0001249	HP:0001249	Intellectual disability	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	95	501	6180	147265
HP:0001249	HP:0001249	Intellectual disability	0	IYD CL E G H	389434	95716				ORPHA	1	5	46	21071	612025
HP:0001249	HP:0001249	Intellectual disability	0	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	5	46	21071	612025
HP:0001249	HP:0001249	Intellectual disability	0	KANK1 CL E G H	23189	612900	Cerebral palsy, spastic quadriplegic, 2	612900	C2752061	OMIM	1	11	392	19309	607704
HP:0001249	HP:0001249	Intellectual disability	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	72	840	24565	612452
HP:0001249	HP:0001249	Intellectual disability	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	29	219	13013	601408
HP:0001249	HP:0001249	Intellectual disability	0	KAT6B CL E G H	23522	3047				ORPHA	1	76	228	17582	605880
HP:0001249	HP:0001249	Intellectual disability	0	KAT6B CL E G H	23522	85201				ORPHA	1	76	228	17582	605880
HP:0001249	HP:0001249	Intellectual disability	0	KCNA2 CL E G H	3737	442835				ORPHA	1	21	129	6220	176262
HP:0001249	HP:0001249	Intellectual disability	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	21	129	6220	176262
HP:0001249	HP:0001249	Intellectual disability	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	5	85	6229	601142
HP:0001249	HP:0001249	Intellectual disability	0	KCNB1 CL E G H	3745	442835				ORPHA	1	30	278	6231	600397
HP:0001249	HP:0001249	Intellectual disability	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	12	94	6235	176264
HP:0001249	HP:0001249	Intellectual disability	0	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	1	13	91	6250	603305
HP:0001249	HP:0001249	Intellectual disability	0	KCNJ1 CL E G H	3758	241200	Bartter syndrome, type 2, antenatal	241200	C1855849	OMIM	1	70	176	6255	600359
HP:0001249	HP:0001249	Intellectual disability	0	KCNJ10 CL E G H	3766	274600	Pendred's syndrome	274600	C0271829	OMIM	1	33	233	6256	602208
HP:0001249	HP:0001249	Intellectual disability	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	33	233	6256	602208
HP:0001249	HP:0001249	Intellectual disability	0	KCNJ11 CL E G H	3767	99886				ORPHA	1	187	227	6257	600937
HP:0001249	HP:0001249	Intellectual disability	0	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	2	65	6283	605874
HP:0001249	HP:0001249	Intellectual disability	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	314	1056	6296	602235
HP:0001249	HP:0001249	Intellectual disability	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	314	1056	6296	602235
HP:0001249	HP:0001249	Intellectual disability	0	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	1	6	41	6299	607357
HP:0001249	HP:0001249	Intellectual disability	0	KCTD7 CL E G H	154881	263516				ORPHA	1	21	248	21957	611725
HP:0001249	HP:0001249	Intellectual disability	0	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	1	21	248	21957	611725
HP:0001249	HP:0001249	Intellectual disability	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	311	12637	300128
HP:0001249	HP:0001249	Intellectual disability	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1	2		29068	616650
HP:0001249	HP:0001249	Intellectual disability	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	31	155	19960	610178
HP:0001249	HP:0001249	Intellectual disability	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	7	65	29110	617112
HP:0001249	HP:0001249	Intellectual disability	0	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1	16	71	26953	611565
HP:0001249	HP:0001249	Intellectual disability	0	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	9	273	22219	613344
HP:0001249	HP:0001249	Intellectual disability	0	KIDINS220 CL E G H	57498	521390				ORPHA	1	15	84	29508	615759
HP:0001249	HP:0001249	Intellectual disability	0	KIDINS220 CL E G H	57498	617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296	C4284592	OMIM	1	15	84	29508	615759
HP:0001249	HP:0001249	Intellectual disability	0	KIF11 CL E G H	3832	2526				ORPHA	1	70	172	6388	148760
HP:0001249	HP:0001249	Intellectual disability	0	KIF14 CL E G H	9928	617914	MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE	617914	CN895593	OMIM	1	16	77	19181	611279
HP:0001249	HP:0001249	Intellectual disability	0	KIF1BP CL E G H	26128	66629				ORPHA	1	10		23419	609367
HP:0001249	HP:0001249	Intellectual disability	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1	10		23419	609367
HP:0001249	HP:0001249	Intellectual disability	0	KIF4A CL E G H	24137	300923	Mental retardation, X-linked 100	300923	C3890167	OMIM	1	2	163	13339	300521
HP:0001249	HP:0001249	Intellectual disability	0	KIF7 CL E G H	374654	2754				ORPHA	1	45	386	30497	611254
HP:0001249	HP:0001249	Intellectual disability	0	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	4	86	15865	615757
HP:0001249	HP:0001249	Intellectual disability	0	KLHL15 CL E G H	80311	300982	Mental retardation, X-linked 103	300982	C4310818	OMIM	1	4	172	29347	300980
HP:0001249	HP:0001249	Intellectual disability	0	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	14	127	15646	611119
HP:0001249	HP:0001249	Intellectual disability	0	KLLN CL E G H	100144748	201				ORPHA	1	8	238	37212	612105
HP:0001249	HP:0001249	Intellectual disability	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	127	379	7132	159555
HP:0001249	HP:0001249	Intellectual disability	0	KMT2C CL E G H	58508	617768	KLEEFSTRA SYNDROME 2	617768	C4540395	OMIM	1	38	294	13726	606833
HP:0001249	HP:0001249	Intellectual disability	0	KMT2D CL E G