Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Neurodevelopmental abnormality (HP:0012759)help
..Starting node
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Intellectual disability (HP:0001249)help
Term ID: 1249
Name: Intellectual disability
Synonym: Dull intelligence; Intellectual disability; Low intelligence; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Poor school performance
Definition: Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Comments:
Reference: HP:0001249
Genes and Diseases:
 
       Child Nodes:
........expandIntellectual disability, mild (HP:0001256) help
........expandIntellectual disability, profound (HP:0002187) help
........expandIntellectual disability, moderate (HP:0002342) help
........expandIntellectual disability, progressive (HP:0006887) help
........expandIntellectual disability, borderline (HP:0006889) help
........expandIntellectual disability, severe (HP:0010864) help

 Sister Nodes: 
..expandDevelopmental regression (HP:0002376) help
..expandDevelopmental stagnation (HP:0007281) help
..expandNeurodevelopmental delay (HP:0012758) help
..expandSpecific learning disability (HP:0001328) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001249HP:0001249Intellectual disability0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0001249HP:0001249Intellectual disability0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0001249HP:0001249Intellectual disability0AARS CL E G H16442835ORPHA120601065
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM19717366605113
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM110817366605113
HP:0001249HP:0001249Intellectual disability0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0001249HP:0001249Intellectual disability0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683399886ORPHA1112559600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683399886ORPHA1125359600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1112559600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1125359600509
HP:0001249HP:0001249Intellectual disability0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0001249HP:0001249Intellectual disability0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0001249HP:0001249Intellectual disability0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM136693607809
HP:0001249HP:0001249Intellectual disability0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM141293607809
HP:0001249HP:0001249Intellectual disability0ACD CL E G H650573322ORPHA122925070609377
HP:0001249HP:0001249Intellectual disability0ACD CL E G H650573322ORPHA132125070609377
HP:0001249HP:0001249Intellectual disability0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001249HP:0001249Intellectual disability0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182777Arthrogryposis multiplex congenitaC0003886ORPHA12333571300157
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182777Arthrogryposis multiplex congenitaC0003886ORPHA12393571300157
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12333571300157
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12393571300157
HP:0001249HP:0001249Intellectual disability0ACTA2 CL E G H592573Growth retardation alopecia pseudoanodontia opticORPHA1362130102620
HP:0001249HP:0001249Intellectual disability0ACTA2 CL E G H592573Growth retardation alopecia pseudoanodontia opticORPHA1387130102620
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H6079107ORPHA1322132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H6079107ORPHA1349132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0001249HP:0001249Intellectual disability0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0001249HP:0001249Intellectual disability0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0001249HP:0001249Intellectual disability0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0001249HP:0001249Intellectual disability0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0001249HP:0001249Intellectual disability0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM17625151615302
HP:0001249HP:0001249Intellectual disability0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM18525151615302
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM14944512604110
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM15364512604110
HP:0001249HP:0001249Intellectual disability0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0001249HP:0001249Intellectual disability0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1368291608222
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1582291608222
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001249HP:0001249Intellectual disability0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13413776300806
HP:0001249HP:0001249Intellectual disability0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13493776300806
HP:0001249HP:0001249Intellectual disability0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM111217869604417
HP:0001249HP:0001249Intellectual disability0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM115717869604417
HP:0001249HP:0001249Intellectual disability0AGA CL E G H17593ORPHA1330318613228
HP:0001249HP:0001249Intellectual disability0AGA CL E G H17593ORPHA1355318613228
HP:0001249HP:0001249Intellectual disability0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0001249HP:0001249Intellectual disability0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0001249HP:0001249Intellectual disability0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0001249HP:0001249Intellectual disability0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0001249HP:0001249Intellectual disability0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1203325603100
HP:0001249HP:0001249Intellectual disability0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1205325603100
HP:0001249HP:0001249Intellectual disability0AGRN CL E G H37579098914ORPHA11309329103320
HP:0001249HP:0001249Intellectual disability0AGRN CL E G H37579098914ORPHA11579329103320
HP:0001249HP:0001249Intellectual disability0AGTR2 CL E G H186777Arthrogryposis multiplex congenitaC0003886ORPHA1181338300034
HP:0001249HP:0001249Intellectual disability0AGTR2 CL E G H186777Arthrogryposis multiplex congenitaC0003886ORPHA1183338300034
HP:0001249HP:0001249Intellectual disability0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1113343180960
HP:0001249HP:0001249Intellectual disability0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM1126343180960
HP:0001249HP:0001249Intellectual disability0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM131225230615790
HP:0001249HP:0001249Intellectual disability0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM137325230615790
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806220493ORPHA165021575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806220493ORPHA182721575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA165021575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA182721575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0001249HP:0001249Intellectual disability0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0001249HP:0001249Intellectual disability0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0001249HP:0001249Intellectual disability0AHSG CL E G H1972850ORPHA161349138680
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131101078ORPHA14138768300169
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131101078ORPHA14508768300169
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207201ORPHA1380391164730
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207201ORPHA1417391164730
HP:0001249HP:0001249Intellectual disability0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1228393611223
HP:0001249HP:0001249Intellectual disability0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1249393611223
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H583235664ORPHA13469722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H583235664ORPHA13929722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1437403609523
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1475403609523
HP:0001249HP:0001249Intellectual disability0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM1197406606811
HP:0001249HP:0001249Intellectual disability0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM1220406606811
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1472408610045
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1537408610045
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H5013006ORPHA1619877107323
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H5013006ORPHA1696877107323
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0001249HP:0001249Intellectual disability0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0001249HP:0001249Intellectual disability0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0001249HP:0001249Intellectual disability0ALG13 CL E G H79868777Arthrogryposis multiplex congenitaC0003886ORPHA163330881300776
HP:0001249HP:0001249Intellectual disability0ALG13 CL E G H79868777Arthrogryposis multiplex congenitaC0003886ORPHA171030881300776
HP:0001249HP:0001249Intellectual disability0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0001249HP:0001249Intellectual disability0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0001249HP:0001249Intellectual disability0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001249HP:0001249Intellectual disability0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001249HP:0001249Intellectual disability0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1285430603741
HP:0001249HP:0001249Intellectual disability0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1291430603741
HP:0001249HP:0001249Intellectual disability0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120213743607206
HP:0001249HP:0001249Intellectual disability0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM120913743607206
HP:0001249HP:0001249Intellectual disability0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM1311494601527
HP:0001249HP:0001249Intellectual disability0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM142449606014
HP:0001249HP:0001249Intellectual disability0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM143449606014
HP:0001249HP:0001249Intellectual disability0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1192467300195
HP:0001249HP:0001249Intellectual disability0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1196467300195
HP:0001249HP:0001249Intellectual disability0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001249HP:0001249Intellectual disability0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001249HP:0001249Intellectual disability0ANK1 CL E G H286251066ORPHA1567492612641
HP:0001249HP:0001249Intellectual disability0ANK1 CL E G H286251066ORPHA1604492612641
HP:0001249HP:0001249Intellectual disability0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1110121316611192
HP:0001249HP:0001249Intellectual disability0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1118421316611192
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174171851ORPHA153559603531
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174171851ORPHA155559603531
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001249HP:0001249Intellectual disability0AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001249HP:0001249Intellectual disability0AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM171322197613653
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM178022197613653
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297821ORPHA117924036612034
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297821ORPHA119424036612034
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM117924036612034
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM119424036612034
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0001249HP:0001249Intellectual disability0APP CL E G H351324703ORPHA1320620104760
HP:0001249HP:0001249Intellectual disability0APP CL E G H351324703ORPHA1364620104760
HP:0001249HP:0001249Intellectual disability0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0001249HP:0001249Intellectual disability0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0001249HP:0001249Intellectual disability0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0001249HP:0001249Intellectual disability0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0001249HP:0001249Intellectual disability0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1234663608313
HP:0001249HP:0001249Intellectual disability0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1295663608313
HP:0001249HP:0001249Intellectual disability0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001249HP:0001249Intellectual disability0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001249HP:0001249Intellectual disability0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM141678601925
HP:0001249HP:0001249Intellectual disability0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0001249HP:0001249Intellectual disability0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0001249HP:0001249Intellectual disability0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM137682607560
HP:0001249HP:0001249Intellectual disability0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM141682607560
HP:0001249HP:0001249Intellectual disability0ARHGEF6 CL E G H9459777Arthrogryposis multiplex congenitaC0003886ORPHA1238685300267
HP:0001249HP:0001249Intellectual disability0ARHGEF6 CL E G H9459777Arthrogryposis multiplex congenitaC0003886ORPHA1243685300267
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H82891465ORPHA138311110603024
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H82891465ORPHA144211110603024
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H574921465ORPHA186618040614556
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H574921465ORPHA195818040614556
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA118425419608922
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA122225419608922
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0001249HP:0001249Intellectual disability0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0001249HP:0001249Intellectual disability0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA164694604695
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA190694604695
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100110ORPHA111313210608845
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100110ORPHA114313210608845
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA125120730617612
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA138020730617612
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0001249HP:0001249Intellectual disability0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001249HP:0001249Intellectual disability0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001249HP:0001249Intellectual disability0ARSI CL E G H340075401815ORPHA18432521610009
HP:0001249HP:0001249Intellectual disability0ARSI CL E G H340075401815ORPHA19632521610009
HP:0001249HP:0001249Intellectual disability0ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001249HP:0001249Intellectual disability0ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302452ORPHA156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302452ORPHA162418060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H1703023175ORPHA156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H1703023175ORPHA162418060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302777Arthrogryposis multiplex congenitaC0003886ORPHA156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302777Arthrogryposis multiplex congenitaC0003886ORPHA162418060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM162418060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302300419Mental retardation, with or without seizures, ARX-related, X-linked300419C0796244OMIM156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302300419Mental retardation, with or without seizures, ARX-related, X-linked300419C0796244OMIM162418060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1420735613468
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1593735613468
HP:0001249HP:0001249Intellectual disability0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0001249HP:0001249Intellectual disability0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0001249HP:0001249Intellectual disability0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0001249HP:0001249Intellectual disability0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0001249HP:0001249Intellectual disability0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0001249HP:0001249Intellectual disability0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1423746608310
HP:0001249HP:0001249Intellectual disability0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1469746608310
HP:0001249HP:0001249Intellectual disability0ASPA CL E G H443314911ORPHA1245756608034
HP:0001249HP:0001249Intellectual disability0ASPA CL E G H443314911ORPHA1281756608034
HP:0001249HP:0001249Intellectual disability0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM192019048605481
HP:0001249HP:0001249Intellectual disability0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1110319048605481
HP:0001249HP:0001249Intellectual disability0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0001249HP:0001249Intellectual disability0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0001249HP:0001249Intellectual disability0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0001249HP:0001249Intellectual disability0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0001249HP:0001249Intellectual disability0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0001249HP:0001249Intellectual disability0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210496790ORPHA125025567612316
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210496790ORPHA126425567612316
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1726800182340
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1801800182340
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0001249HP:0001249Intellectual disability0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM136838606153
HP:0001249HP:0001249Intellectual disability0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM137838606153
HP:0001249HP:0001249Intellectual disability0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM126318305300556
HP:0001249HP:0001249Intellectual disability0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM128618305300556
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1115854606939
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1118854606939
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538198ORPHA1897869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538198ORPHA11003869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538565ORPHA1897869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538565ORPHA11003869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0001249HP:0001249Intellectual disability0ATP7B CL E G H540905ORPHA11389870606882
HP:0001249HP:0001249Intellectual disability0ATP7B CL E G H540905ORPHA11579870606882
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545808Baker Vinters syndromeORPHA1755882601215
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545808Baker Vinters syndromeORPHA11007882601215
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0001249HP:0001249Intellectual disability0ATRIP CL E G H84126808Baker Vinters syndromeORPHA123933499606605
HP:0001249HP:0001249Intellectual disability0ATRIP CL E G H84126808Baker Vinters syndromeORPHA133333499606605
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546847ORPHA11103886300032
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546847ORPHA11217886300032
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0001249HP:0001249Intellectual disability0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0001249HP:0001249Intellectual disability0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0001249HP:0001249Intellectual disability0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1371897300538
HP:0001249HP:0001249Intellectual disability0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1382897300538
HP:0001249HP:0001249Intellectual disability0B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0001249HP:0001249Intellectual disability0B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0001249HP:0001249Intellectual disability0B3GLCT CL E G H145173709ORPHA122620207610308
HP:0001249HP:0001249Intellectual disability0B3GLCT CL E G H145173709ORPHA124820207610308
HP:0001249HP:0001249Intellectual disability0B4GALNT1 CL E G H2583101006ORPHA11484117601873
HP:0001249HP:0001249Intellectual disability0B4GALNT1 CL E G H2583101006ORPHA11694117601873
HP:0001249HP:0001249Intellectual disability0B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0001249HP:0001249Intellectual disability0B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA119624123614144
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA123024123614144
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0001249HP:0001249Intellectual disability0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0001249HP:0001249Intellectual disability0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0001249HP:0001249Intellectual disability0BBIP1 CL E G H92482110ORPHA15928093613605
HP:0001249HP:0001249Intellectual disability0BBIP1 CL E G H92482110ORPHA17128093613605
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582110ORPHA1491966209901
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582110ORPHA1582966209901
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001249HP:0001249Intellectual disability0BBS10 CL E G H79738110ORPHA143826291610148
HP:0001249HP:0001249Intellectual disability0BBS10 CL E G H79738110ORPHA152826291610148
HP:0001249HP:0001249Intellectual disability0BBS12 CL E G H166379110ORPHA135526648610683
HP:0001249HP:0001249Intellectual disability0BBS12 CL E G H166379110ORPHA143926648610683
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583110ORPHA1482967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583110ORPHA1585967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1482967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1585967606151
HP:0001249HP:0001249Intellectual disability0BBS4 CL E G H585110ORPHA1299969600374
HP:0001249HP:0001249Intellectual disability0BBS4 CL E G H585110ORPHA1378969600374
HP:0001249HP:0001249Intellectual disability0BBS5 CL E G H129880110ORPHA1147970603650
HP:0001249HP:0001249Intellectual disability0BBS5 CL E G H129880110ORPHA1199970603650
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212110ORPHA125418758607590
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212110ORPHA132618758607590
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM125418758607590
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM132618758607590
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241110ORPHA142630000607968
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241110ORPHA151230000607968
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM142630000607968
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM151230000607968
HP:0001249HP:0001249Intellectual disability0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001249HP:0001249Intellectual disability0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001249HP:0001249Intellectual disability0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001249HP:0001249Intellectual disability0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001249HP:0001249Intellectual disability0BCKDK CL E G H10295614923Branched-chain keto acid dehydrogenase kinase deficiency614923C3554078OMIM19316902614901
HP:0001249HP:0001249Intellectual disability0BCKDK CL E G H10295614923Branched-chain keto acid dehydrogenase kinase deficiency614923C3554078OMIM110116902614901
HP:0001249HP:0001249Intellectual disability0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0001249HP:0001249Intellectual disability0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001249HP:0001249Intellectual disability0BCR CL E G H613261330ORPHA12141014151410
HP:0001249HP:0001249Intellectual disability0BCR CL E G H613261330ORPHA12171014151410
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001249HP:0001249Intellectual disability0BDNF CL E G H627893ORPHA1561033113505
HP:0001249HP:0001249Intellectual disability0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0001249HP:0001249Intellectual disability0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0001249HP:0001249Intellectual disability0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11293581601819
HP:0001249HP:0001249Intellectual disability0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM11393581601819
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16181097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16801097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16181097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16801097164757
HP:0001249HP:0001249Intellectual disability0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0001249HP:0001249Intellectual disability0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H67284ORPHA1122071100113705
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H67284ORPHA1125861100113705
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1122071100113705
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1125861100113705
HP:0001249HP:0001249Intellectual disability0BRCA2 CL E G H67584ORPHA1139121101600185
HP:0001249HP:0001249Intellectual disability0BRCA2 CL E G H67584ORPHA1147421101600185
HP:0001249HP:0001249Intellectual disability0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0001249HP:0001249Intellectual disability0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0001249HP:0001249Intellectual disability0BRIP1 CL E G H8399084ORPHA1346420473605882
HP:0001249HP:0001249Intellectual disability0BRIP1 CL E G H8399084ORPHA1377820473605882
HP:0001249HP:0001249Intellectual disability0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0001249HP:0001249Intellectual disability0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0001249HP:0001249Intellectual disability0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA133015832606158
HP:0001249HP:0001249Intellectual disability0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA137315832606158
HP:0001249HP:0001249Intellectual disability0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM119816512606412
HP:0001249HP:0001249Intellectual disability0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM120916512606412
HP:0001249HP:0001249Intellectual disability0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0001249HP:0001249Intellectual disability0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0001249HP:0001249Intellectual disability0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0001249HP:0001249Intellectual disability0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0001249HP:0001249Intellectual disability0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0001249HP:0001249Intellectual disability0C12orf57 CL E G H1132461777ORPHA119929521615140
HP:0001249HP:0001249Intellectual disability0C12orf57 CL E G H1132461777ORPHA120829521615140
HP:0001249HP:0001249Intellectual disability0C8orf37 CL E G H157657110ORPHA127232614477
HP:0001249HP:0001249Intellectual disability0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H7602785ORPHA11041373611492
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H7602785ORPHA11191373611492
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0001249HP:0001249Intellectual disability0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0001249HP:0001249Intellectual disability0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0001249HP:0001249Intellectual disability0CA8 CL E G H7671766ORPHA1771382114815
HP:0001249HP:0001249Intellectual disability0CA8 CL E G H7671766ORPHA1831382114815
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001249HP:0001249Intellectual disability0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001249HP:0001249Intellectual disability0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001249HP:0001249Intellectual disability0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1561460114078
HP:0001249HP:0001249Intellectual disability0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1621460114078
HP:0001249HP:0001249Intellectual disability0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0001249HP:0001249Intellectual disability0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA118519721613165
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA121819721613165
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0001249HP:0001249Intellectual disability0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM15831497300172
HP:0001249HP:0001249Intellectual disability0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM16331497300172
HP:0001249HP:0001249Intellectual disability0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1811527601047
HP:0001249HP:0001249Intellectual disability0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA1851527601047
HP:0001249HP:0001249Intellectual disability0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11099688603198
HP:0001249HP:0001249Intellectual disability0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11109688603198
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875394ORPHA17921550613381
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875394ORPHA18561550613381
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM188129253612013
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM1106429253612013
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0001249HP:0001249Intellectual disability0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0001249HP:0001249Intellectual disability0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0001249HP:0001249Intellectual disability0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM125819967611204
HP:0001249HP:0001249Intellectual disability0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM126519967611204
HP:0001249HP:0001249Intellectual disability0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA15616892606037
HP:0001249HP:0001249Intellectual disability0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA16216892606037
HP:0001249HP:0001249Intellectual disability0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM1441736116952
HP:0001249HP:0001249Intellectual disability0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM1481736116952
HP:0001249HP:0001249Intellectual disability0CDCA7 CL E G H838792268ORPHA15614628609937
HP:0001249HP:0001249Intellectual disability0CDCA7 CL E G H838792268ORPHA110314628609937
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1521750600023
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1591750600023
HP:0001249HP:0001249Intellectual disability0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0001249HP:0001249Intellectual disability0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0001249HP:0001249Intellectual disability0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0001249HP:0001249Intellectual disability0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0001249HP:0001249Intellectual disability0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0001249HP:0001249Intellectual disability0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H67923095ORPHA1127011411300203
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H67923095ORPHA1139911411300203
HP:0001249HP:0001249Intellectual disability0CDON CL E G H50937280200ORPHA148917104608707
HP:0001249HP:0001249Intellectual disability0CDON CL E G H50937280200ORPHA151817104608707
HP:0001249HP:0001249Intellectual disability0CENPE CL E G H1062808Baker Vinters syndromeORPHA12521856117143
HP:0001249HP:0001249Intellectual disability0CENPE CL E G H1062808Baker Vinters syndromeORPHA12621856117143
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H55835808Baker Vinters syndromeORPHA134717272609279
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H55835808Baker Vinters syndromeORPHA139917272609279
HP:0001249HP:0001249Intellectual disability0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA135424866616690
HP:0001249HP:0001249Intellectual disability0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA138424866616690
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241220493ORPHA121026690613446
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241220493ORPHA125026690613446
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA121026690613446
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA125026690613446
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995808Baker Vinters syndromeORPHA133429298613529
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995808Baker Vinters syndromeORPHA140429298613529
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM133429298613529
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM140429298613529
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184110ORPHA1153529021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184110ORPHA1190229021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM1153529021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM1190229021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1153529021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1190229021610142
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681220493ORPHA129712370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681220493ORPHA134712370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA129712370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA134712370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM129712370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM134712370610523
HP:0001249HP:0001249Intellectual disability0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0001249HP:0001249Intellectual disability0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0001249HP:0001249Intellectual disability0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM116725815614724
HP:0001249HP:0001249Intellectual disability0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM120025815614724
HP:0001249HP:0001249Intellectual disability0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0001249HP:0001249Intellectual disability0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0001249HP:0001249Intellectual disability0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM122314253606919
HP:0001249HP:0001249Intellectual disability0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM128914253606919
HP:0001249HP:0001249Intellectual disability0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0001249HP:0001249Intellectual disability0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0001249HP:0001249Intellectual disability0CHAT CL E G H110398914ORPHA15111912118490
HP:0001249HP:0001249Intellectual disability0CHAT CL E G H110398914ORPHA16521912118490
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105529965ORPHA1671915602118
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105529965ORPHA1741915602118
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1671915602118
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1741915602118
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11062382ORPHA111631917602119
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11062382ORPHA113261917602119
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM111631917602119
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM113261917602119
HP:0001249HP:0001249Intellectual disability0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0001249HP:0001249Intellectual disability0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0001249HP:0001249Intellectual disability0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0001249HP:0001249Intellectual disability0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0001249HP:0001249Intellectual disability0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0001249HP:0001249Intellectual disability0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0001249HP:0001249Intellectual disability0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0001249HP:0001249Intellectual disability0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0001249HP:0001249Intellectual disability0CHRNA7 CL E G H1139199318ORPHA13401960118511
HP:0001249HP:0001249Intellectual disability0CHRNA7 CL E G H1139199318ORPHA13461960118511
HP:0001249HP:0001249Intellectual disability0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0001249HP:0001249Intellectual disability0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0001249HP:0001249Intellectual disability0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM119114214612082
HP:0001249HP:0001249Intellectual disability0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM121214214612082
HP:0001249HP:0001249Intellectual disability0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13191985605629
HP:0001249HP:0001249Intellectual disability0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13291985605629
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001249HP:0001249Intellectual disability0CLCN4 CL E G H1183777Arthrogryposis multiplex congenitaC0003886ORPHA14792022302910
HP:0001249HP:0001249Intellectual disability0CLCN4 CL E G H1183777Arthrogryposis multiplex congenitaC0003886ORPHA15122022302910
HP:0001249HP:0001249Intellectual disability0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11862026602024
HP:0001249HP:0001249Intellectual disability0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11872026602024
HP:0001249HP:0001249Intellectual disability0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13042027602023
HP:0001249HP:0001249Intellectual disability0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13382027602023
HP:0001249HP:0001249Intellectual disability0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0001249HP:0001249Intellectual disability0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0001249HP:0001249Intellectual disability0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM16822074607042
HP:0001249HP:0001249Intellectual disability0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM17662074607042
HP:0001249HP:0001249Intellectual disability0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM14492076608102
HP:0001249HP:0001249Intellectual disability0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM15092076608102
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H20551947ORPHA14312079607837
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H20551947ORPHA14832079607837
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14312079607837
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14832079607837
HP:0001249HP:0001249Intellectual disability0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001249HP:0001249Intellectual disability0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001249HP:0001249Intellectual disability0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001249HP:0001249Intellectual disability0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001249HP:0001249Intellectual disability0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0001249HP:0001249Intellectual disability0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213442835ORPHA11022092118955
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213442835ORPHA12022092118955
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM11022092118955
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM12022092118955
HP:0001249HP:0001249Intellectual disability0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12432148123825
HP:0001249HP:0001249Intellectual disability0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13042148123825
HP:0001249HP:0001249Intellectual disability0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16422151600724
HP:0001249HP:0001249Intellectual disability0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17992151600724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866777Arthrogryposis multiplex congenitaC0003886ORPHA124919701300724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866777Arthrogryposis multiplex congenitaC0003886ORPHA125619701300724
HP:0001249HP:0001249Intellectual disability0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1176103607803
HP:0001249HP:0001249Intellectual disability0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1191103607803
HP:0001249HP:0001249Intellectual disability0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0001249HP:0001249Intellectual disability0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0001249HP:0001249Intellectual disability0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0001249HP:0001249Intellectual disability0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0001249HP:0001249Intellectual disability0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM131114857606821
HP:0001249HP:0001249Intellectual disability0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM149014857606821
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM128118621606977
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM129718621606977
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM128118621606977
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM129718621606977
HP:0001249HP:0001249Intellectual disability0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM115618623606979
HP:0001249HP:0001249Intellectual disability0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM117718623606979
HP:0001249HP:0001249Intellectual disability0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0001249HP:0001249Intellectual disability0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0001249HP:0001249Intellectual disability0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA119352201120180
HP:0001249HP:0001249Intellectual disability0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA120832201120180
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282899ORPHA18372202120130
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282899ORPHA110102202120130
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0001249HP:0001249Intellectual disability0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584293843ORPHA1542220607620
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584293843ORPHA1552220607620
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0001249HP:0001249Intellectual disability0COLEC11 CL E G H78989293843ORPHA16217213612502
HP:0001249HP:0001249Intellectual disability0COLEC11 CL E G H78989293843ORPHA16517213612502
HP:0001249HP:0001249Intellectual disability0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001249HP:0001249Intellectual disability0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001249HP:0001249Intellectual disability0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0001249HP:0001249Intellectual disability0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0001249HP:0001249Intellectual disability0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001249HP:0001249Intellectual disability0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001249HP:0001249Intellectual disability0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0001249HP:0001249Intellectual disability0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0001249HP:0001249Intellectual disability0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0001249HP:0001249Intellectual disability0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0001249HP:0001249Intellectual disability0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA182425801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1123925801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0001249HP:0001249Intellectual disability0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM18142323608307
HP:0001249HP:0001249Intellectual disability0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM19102323608307
HP:0001249HP:0001249Intellectual disability0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1442340603454
HP:0001249HP:0001249Intellectual disability0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM1462340603454
HP:0001249HP:0001249Intellectual disability0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18942343604210
HP:0001249HP:0001249Intellectual disability0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110852343604210
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001249HP:0001249Intellectual disability0CRKL CL E G H1399261330ORPHA13982363602007
HP:0001249HP:0001249Intellectual disability0CRKL CL E G H1399261330ORPHA14062363602007
HP:0001249HP:0001249Intellectual disability0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13612383602225
HP:0001249HP:0001249Intellectual disability0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14192383602225
HP:0001249HP:0001249Intellectual disability0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0001249HP:0001249Intellectual disability0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA147626193611654
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA168726193611654
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM147626193611654
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM168726193611654
HP:0001249HP:0001249Intellectual disability0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM119013723604167
HP:0001249HP:0001249Intellectual disability0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM120113723604167
HP:0001249HP:0001249Intellectual disability0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0001249HP:0001249Intellectual disability0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM12692514116806
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM13642514116806
HP:0001249HP:0001249Intellectual disability0CTSA CL E G H5476351ORPHA11499251613111
HP:0001249HP:0001249Intellectual disability0CTSA CL E G H5476351ORPHA12109251613111
HP:0001249HP:0001249Intellectual disability0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13102555300304
HP:0001249HP:0001249Intellectual disability0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13222555300304
HP:0001249HP:0001249Intellectual disability0CUX2 CL E G H233162382ORPHA16819347610648
HP:0001249HP:0001249Intellectual disability0CUX2 CL E G H233162382ORPHA17519347610648
HP:0001249HP:0001249Intellectual disability0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM113510664617170
HP:0001249HP:0001249Intellectual disability0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM119610664617170
HP:0001249HP:0001249Intellectual disability0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0001249HP:0001249Intellectual disability0CXorf56 CL E G H63932777Arthrogryposis multiplex congenitaC0003886ORPHA126239301012
HP:0001249HP:0001249Intellectual disability0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM126239301012
HP:0001249HP:0001249Intellectual disability0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0001249HP:0001249Intellectual disability0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0001249HP:0001249Intellectual disability0CYFIP2 CL E G H26999442835ORPHA18413760606323
HP:0001249HP:0001249Intellectual disability0CYFIP2 CL E G H26999442835ORPHA117513760606323
HP:0001249HP:0001249Intellectual disability0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM12012602126065
HP:0001249HP:0001249Intellectual disability0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM12202602126065
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0001249HP:0001249Intellectual disability0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM133128358609186
HP:0001249HP:0001249Intellectual disability0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM135728358609186
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605899ORPHA13762666128239
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605899ORPHA14672666128239
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0001249HP:0001249Intellectual disability0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001249HP:0001249Intellectual disability0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H800673464ORPHA122925784612515
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H800673464ORPHA125125784612515
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM122925784612515
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM125125784612515
HP:0001249HP:0001249Intellectual disability0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM11602701120470
HP:0001249HP:0001249Intellectual disability0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM11622701120470
HP:0001249HP:0001249Intellectual disability0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001249HP:0001249Intellectual disability0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001249HP:0001249Intellectual disability0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0001249HP:0001249Intellectual disability0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259320380ORPHA119229106615003
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259320380ORPHA123029106615003
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0001249HP:0001249Intellectual disability0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11232736601150
HP:0001249HP:0001249Intellectual disability0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11262736601150
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654457260ORPHA14612745300160
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654457260ORPHA14962745300160
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14612745300160
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14962745300160
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H834792919ORPHA14825360615464
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H834792919ORPHA15625360615464
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H83479174300Orofaciodigital syndrome 5174300C1868118OMIM14825360615464
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H83479174300Orofaciodigital syndrome 5174300C1868118OMIM15625360615464
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM117914677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM131114677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM117914677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM131114677602635
HP:0001249HP:0001249Intellectual disability0DHCR24 CL E G H171835107ORPHA11802859606418
HP:0001249HP:0001249Intellectual disability0DHCR24 CL E G H171835107ORPHA11982859606418
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947442835ORPHA119920603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947442835ORPHA125620603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119920603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125620603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM119920603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM125620603608172
HP:0001249HP:0001249Intellectual disability0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0001249HP:0001249Intellectual disability0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0001249HP:0001249Intellectual disability0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132817211605584
HP:0001249HP:0001249Intellectual disability0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147017211605584
HP:0001249HP:0001249Intellectual disability0DIP2B CL E G H57609136630Mental retardation, fra12a type136630C1969893OMIM14229284611379
HP:0001249HP:0001249Intellectual disability0DIP2B CL E G H57609136630Mental retardation, fra12a type136630C1969893OMIM14429284611379
HP:0001249HP:0001249Intellectual disability0DIS3L2 CL E G H1295632849ORPHA1124928648614184