Human Phenotype Ontology 
Grandparent Node:
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Abnormality of 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 achalasia231550C0271742OMIM1799913666605378
HP:0001249HP:0001249Intellectual disability0AARS CL E G H16442835ORPHA12120601065
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001249HP:0001249Intellectual disability0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM1146617366605113
HP:0001249HP:0001249Intellectual disability0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H683399886ORPHA166160259600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM166160259600509
HP:0001249HP:0001249Intellectual disability0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM166160259600509
HP:0001249HP:0001249Intellectual disability0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0001249HP:0001249Intellectual disability0ACAT1 CL E G H38203750Deficiency of acetyl-CoA acetyltransferase203750C1536500OMIM19724693607809
HP:0001249HP:0001249Intellectual disability0ACD CL E G H650573322ORPHA1913525070609377
HP:0001249HP:0001249Intellectual disability0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM111316066617036
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182777Arthrogryposis multiplex congenitaC0003886ORPHA172093571300157
HP:0001249HP:0001249Intellectual disability0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM172093571300157
HP:0001249HP:0001249Intellectual disability0ACTA2 CL E G H592573Growth retardation alopecia pseudoanodontia opticORPHA183290130102620
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H6079107ORPHA165224132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001249HP:0001249Intellectual disability0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001249HP:0001249Intellectual disability0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001249HP:0001249Intellectual disability0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0001249HP:0001249Intellectual disability0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM126725151615302
HP:0001249HP:0001249Intellectual disability0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM1362774512604110
HP:0001249HP:0001249Intellectual disability0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0001249HP:0001249Intellectual disability0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001249HP:0001249Intellectual disability0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM1292983776300806
HP:0001249HP:0001249Intellectual disability0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0001249HP:0001249Intellectual disability0AGA CL E G H17593ORPHA138239318613228
HP:0001249HP:0001249Intellectual disability0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0001249HP:0001249Intellectual disability0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0001249HP:0001249Intellectual disability0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0001249HP:0001249Intellectual disability0AGRN CL E G H37579098914ORPHA118942329103320
HP:0001249HP:0001249Intellectual disability0AGTR2 CL E G H186777Arthrogryposis multiplex congenitaC0003886ORPHA110179338300034
HP:0001249HP:0001249Intellectual disability0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM11594343180960
HP:0001249HP:0001249Intellectual disability0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806220493ORPHA19642221575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19642221575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0001249HP:0001249Intellectual disability0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0001249HP:0001249Intellectual disability0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0001249HP:0001249Intellectual disability0AHSG CL E G H1972850ORPHA1657349138680
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131101078ORPHA1333438768300169
HP:0001249HP:0001249Intellectual disability0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM1333438768300169
HP:0001249HP:0001249Intellectual disability0AKT1 CL E G H207201ORPHA112269391164730
HP:0001249HP:0001249Intellectual disability0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H583235664ORPHA1332529722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001249HP:0001249Intellectual disability0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1332529722138250
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0001249HP:0001249Intellectual disability0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1111308403609523
HP:0001249HP:0001249Intellectual disability0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM15171406606811
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA175334408610045
HP:0001249HP:0001249Intellectual disability0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175334408610045
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H5013006ORPHA1129498877107323
HP:0001249HP:0001249Intellectual disability0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1129498877107323
HP:0001249HP:0001249Intellectual disability0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0001249HP:0001249Intellectual disability0ALG13 CL E G H79868777Arthrogryposis multiplex congenitaC0003886ORPHA11446330881300776
HP:0001249HP:0001249Intellectual disability0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0001249HP:0001249Intellectual disability0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0001249HP:0001249Intellectual disability0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001249HP:0001249Intellectual disability0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001249HP:0001249Intellectual disability0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15291494601527
HP:0001249HP:0001249Intellectual disability0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0001249HP:0001249Intellectual disability0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0001249HP:0001249Intellectual disability0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196208473238310
HP:0001249HP:0001249Intellectual disability0ANK1 CL E G H286251066ORPHA1111388492612641
HP:0001249HP:0001249Intellectual disability0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174171851ORPHA1236559603531
HP:0001249HP:0001249Intellectual disability0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001249HP:0001249Intellectual disability0AP3B2 CL E G H8120442835ORPHA11290567602166
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907306511ORPHA11653622197613653
HP:0001249HP:0001249Intellectual disability0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM11653622197613653
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297821ORPHA1315624036612034
HP:0001249HP:0001249Intellectual disability0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM1315624036612034
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001249HP:0001249Intellectual disability0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001249HP:0001249Intellectual disability0APP CL E G H351324703ORPHA1107232620104760
HP:0001249HP:0001249Intellectual disability0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0001249HP:0001249Intellectual disability0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0001249HP:0001249Intellectual disability0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM174132663608313
HP:0001249HP:0001249Intellectual disability0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001249HP:0001249Intellectual disability0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0001249HP:0001249Intellectual disability0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0001249HP:0001249Intellectual disability0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1231682607560
HP:0001249HP:0001249Intellectual disability0ARHGEF6 CL E G H9459777Arthrogryposis multiplex congenitaC0003886ORPHA15228685300267
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0001249HP:0001249Intellectual disability0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0001249HP:0001249Intellectual disability0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0001249HP:0001249Intellectual disability0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11012025419608922
HP:0001249HP:0001249Intellectual disability0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11012025419608922
HP:0001249HP:0001249Intellectual disability0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1333694604695
HP:0001249HP:0001249Intellectual disability0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100110ORPHA1217913210608845
HP:0001249HP:0001249Intellectual disability0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11110520730617612
HP:0001249HP:0001249Intellectual disability0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM11110520730617612
HP:0001249HP:0001249Intellectual disability0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254567713607574
HP:0001249HP:0001249Intellectual disability0ARSI CL E G H340075401815ORPHA127032521610009
HP:0001249HP:0001249Intellectual disability0ARV1 CL E G H64801442835ORPHA135429561611647
HP:0001249HP:0001249Intellectual disability0ARX CL E G H1703023175ORPHA19846618060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302452ORPHA19846618060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302777Arthrogryposis multiplex congenitaC0003886ORPHA19846618060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM19846618060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302300419Mental retardation, with or without seizures, ARX-related, X-linked300419C0796244OMIM19846618060300382
HP:0001249HP:0001249Intellectual disability0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM19846618060300382
HP:0001249HP:0001249Intellectual disability0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001249HP:0001249Intellectual disability0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA1630738100790
HP:0001249HP:0001249Intellectual disability0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1198319088607999
HP:0001249HP:0001249Intellectual disability0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169264746608310
HP:0001249HP:0001249Intellectual disability0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1169264746608310
HP:0001249HP:0001249Intellectual disability0ASPA CL E G H443314911ORPHA1102177756608034
HP:0001249HP:0001249Intellectual disability0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0001249HP:0001249Intellectual disability0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157323758603470
HP:0001249HP:0001249Intellectual disability0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0001249HP:0001249Intellectual disability0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210496790ORPHA11718625567612316
HP:0001249HP:0001249Intellectual disability0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM199537800182340
HP:0001249HP:0001249Intellectual disability0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199537800182340
HP:0001249HP:0001249Intellectual disability0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1122407801182350
HP:0001249HP:0001249Intellectual disability0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM1128838606153
HP:0001249HP:0001249Intellectual disability0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001249HP:0001249Intellectual disability0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523442835ORPHA1947851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0001249HP:0001249Intellectual disability0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1493854606939
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538565ORPHA1357607869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538198ORPHA1357607869300011
HP:0001249HP:0001249Intellectual disability0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0001249HP:0001249Intellectual disability0ATP7B CL E G H540905ORPHA1938958870606882
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H517611766ORPHA1119113533605870
HP:0001249HP:0001249Intellectual disability0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM1119113533605870
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545808Baker Vinters syndromeORPHA134404882601215
HP:0001249HP:0001249Intellectual disability0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0001249HP:0001249Intellectual disability0ATRIP CL E G H84126808Baker Vinters syndromeORPHA1218333499606605
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546847ORPHA1170663886300032
HP:0001249HP:0001249Intellectual disability0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001249HP:0001249Intellectual disability0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0001249HP:0001249Intellectual disability0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0001249HP:0001249Intellectual disability0B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0001249HP:0001249Intellectual disability0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0001249HP:0001249Intellectual disability0B4GALNT1 CL E G H2583101006ORPHA113974117601873
HP:0001249HP:0001249Intellectual disability0B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11015824123614144
HP:0001249HP:0001249Intellectual disability0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11015824123614144
HP:0001249HP:0001249Intellectual disability0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0001249HP:0001249Intellectual disability0BBIP1 CL E G H92482110ORPHA114328093613605
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582110ORPHA1105309966209901
HP:0001249HP:0001249Intellectual disability0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001249HP:0001249Intellectual disability0BBS10 CL E G H79738110ORPHA110931726291610148
HP:0001249HP:0001249Intellectual disability0BBS12 CL E G H166379110ORPHA16123726648610683
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583110ORPHA196277967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0001249HP:0001249Intellectual disability0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM196277967606151
HP:0001249HP:0001249Intellectual disability0BBS4 CL E G H585110ORPHA154217969600374
HP:0001249HP:0001249Intellectual disability0BBS5 CL E G H129880110ORPHA13186970603650
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212110ORPHA14417518758607590
HP:0001249HP:0001249Intellectual disability0BBS7 CL E G H55212615984Bardet-Biedl syndrome 7615984C1859565OMIM14417518758607590
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241110ORPHA15329230000607968
HP:0001249HP:0001249Intellectual disability0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0001249HP:0001249Intellectual disability0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101255986608348
HP:0001249HP:0001249Intellectual disability0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115319987248611
HP:0001249HP:0001249Intellectual disability0BCKDK CL E G H10295614923Branched-chain keto acid dehydrogenase kinase deficiency614923C3554078OMIM167516902614901
HP:0001249HP:0001249Intellectual disability0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0001249HP:0001249Intellectual disability0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0001249HP:0001249Intellectual disability0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001249HP:0001249Intellectual disability0BCR CL E G H613261330ORPHA122111014151410
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0001249HP:0001249Intellectual disability0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0001249HP:0001249Intellectual disability0BDNF CL E G H627893ORPHA135431033113505
HP:0001249HP:0001249Intellectual disability0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0001249HP:0001249Intellectual disability0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0001249HP:0001249Intellectual disability0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0001249HP:0001249Intellectual disability0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001249HP:0001249Intellectual disability0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0001249HP:0001249Intellectual disability0BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001249HP:0001249Intellectual disability0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0001249HP:0001249Intellectual disability0BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001249HP:0001249Intellectual disability0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0001249HP:0001249Intellectual disability0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0001249HP:0001249Intellectual disability0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0001249HP:0001249Intellectual disability0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0001249HP:0001249Intellectual disability0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0001249HP:0001249Intellectual disability0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0001249HP:0001249Intellectual disability0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0001249HP:0001249Intellectual disability0C8orf37 CL E G H157657110ORPHA11711927232614477
HP:0001249HP:0001249Intellectual disability0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H7602785ORPHA131761373611492
HP:0001249HP:0001249Intellectual disability0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0001249HP:0001249Intellectual disability0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0001249HP:0001249Intellectual disability0CA8 CL E G H7671766ORPHA14451382114815
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773442835ORPHA125113931388601011
HP:0001249HP:0001249Intellectual disability0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125113931388601011
HP:0001249HP:0001249Intellectual disability0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0001249HP:0001249Intellectual disability0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM116351460114078
HP:0001249HP:0001249Intellectual disability0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12816619721613165
HP:0001249HP:0001249Intellectual disability0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001249HP:0001249Intellectual disability0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM11194461497300172
HP:0001249HP:0001249Intellectual disability0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0001249HP:0001249Intellectual disability0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875394ORPHA12146111550613381
HP:0001249HP:0001249Intellectual disability0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12146111550613381
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H575452318ORPHA19658429253612013
HP:0001249HP:0001249Intellectual disability0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19658429253612013
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0001249HP:0001249Intellectual disability0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0001249HP:0001249Intellectual disability0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001249HP:0001249Intellectual disability0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM11119219967611204
HP:0001249HP:0001249Intellectual disability0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA134716892606037
HP:0001249HP:0001249Intellectual disability0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0001249HP:0001249Intellectual disability0CDCA7 CL E G H838792268ORPHA164614628609937
HP:0001249HP:0001249Intellectual disability0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0001249HP:0001249Intellectual disability0CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0001249HP:0001249Intellectual disability0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0001249HP:0001249Intellectual disability0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0001249HP:0001249Intellectual disability0CDKL5 CL E G H67923095ORPHA1388104611411300203
HP:0001249HP:0001249Intellectual disability0CDON CL E G H50937280200ORPHA11339117104608707
HP:0001249HP:0001249Intellectual disability0CENPE CL E G H1062808Baker Vinters syndromeORPHA141001856117143
HP:0001249HP:0001249Intellectual disability0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11028517272609279
HP:0001249HP:0001249Intellectual disability0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1715224866616690
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241220493ORPHA198726690613446
HP:0001249HP:0001249Intellectual disability0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA198726690613446
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12025229298613529
HP:0001249HP:0001249Intellectual disability0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM12025229298613529
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H801842318ORPHA131088429021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184110ORPHA131088429021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184615991Bardet-Biedl syndrome 14615991C2673874OMIM131088429021610142
HP:0001249HP:0001249Intellectual disability0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131088429021610142
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681220493ORPHA11123212370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11123212370610523
HP:0001249HP:0001249Intellectual disability0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0001249HP:0001249Intellectual disability0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0001249HP:0001249Intellectual disability0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM129325815614724
HP:0001249HP:0001249Intellectual disability0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0001249HP:0001249Intellectual disability0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM1114914253606919
HP:0001249HP:0001249Intellectual disability0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0001249HP:0001249Intellectual disability0CHAT CL E G H110398914ORPHA1773741912118490
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105529965ORPHA18391915602118
HP:0001249HP:0001249Intellectual disability0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM18391915602118
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H11062382ORPHA1607931917602119
HP:0001249HP:0001249Intellectual disability0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM1607931917602119
HP:0001249HP:0001249Intellectual disability0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0001249HP:0001249Intellectual disability0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0001249HP:0001249Intellectual disability0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272821938612395
HP:0001249HP:0001249Intellectual disability0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0001249HP:0001249Intellectual disability0CHRNA7 CL E G H1139199318ORPHA1573031960118511
HP:0001249HP:0001249Intellectual disability0CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0001249HP:0001249Intellectual disability0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM11013214214612082
HP:0001249HP:0001249Intellectual disability0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0001249HP:0001249Intellectual disability0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0001249HP:0001249Intellectual disability0CLCN4 CL E G H1183777Arthrogryposis multiplex congenitaC0003886ORPHA1183342022302910
HP:0001249HP:0001249Intellectual disability0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0001249HP:0001249Intellectual disability0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0001249HP:0001249Intellectual disability0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0001249HP:0001249Intellectual disability0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1734932074607042
HP:0001249HP:0001249Intellectual disability0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1523522076608102
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H20551947ORPHA1443522079607837
HP:0001249HP:0001249Intellectual disability0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM1443522079607837
HP:0001249HP:0001249Intellectual disability0CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001249HP:0001249Intellectual disability0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0001249HP:0001249Intellectual disability0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213442835ORPHA114622092118955
HP:0001249HP:0001249Intellectual disability0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114622092118955
HP:0001249HP:0001249Intellectual disability0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0001249HP:0001249Intellectual disability0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866442835ORPHA1621419701300724
HP:0001249HP:0001249Intellectual disability0CNKSR2 CL E G H22866777Arthrogryposis multiplex congenitaC0003886ORPHA1621419701300724
HP:0001249HP:0001249Intellectual disability0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM17131103607803
HP:0001249HP:0001249Intellectual disability0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM178106813830604569
HP:0001249HP:0001249Intellectual disability0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001249HP:0001249Intellectual disability0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM11321914857606821
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001249HP:0001249Intellectual disability0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM11018918621606977
HP:0001249HP:0001249Intellectual disability0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM1712218623606979
HP:0001249HP:0001249Intellectual disability0COL13A1 CL E G H130598914ORPHA13682190120350
HP:0001249HP:0001249Intellectual disability0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA164516472201120180
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0001249HP:0001249Intellectual disability0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0001249HP:0001249Intellectual disability0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0001249HP:0001249Intellectual disability0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0001249HP:0001249Intellectual disability0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0001249HP:0001249Intellectual disability0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001249HP:0001249Intellectual disability0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0001249HP:0001249Intellectual disability0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001249HP:0001249Intellectual disability0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0001249HP:0001249Intellectual disability0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001249HP:0001249Intellectual disability0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001249HP:0001249Intellectual disability0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111859425801614571
HP:0001249HP:0001249Intellectual disability0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0001249HP:0001249Intellectual disability0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM131432309605032
HP:0001249HP:0001249Intellectual disability0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12764452323608307
HP:0001249HP:0001249Intellectual disability0CRADD CL E G H8738614499Mental retardation, autosomal recessive 34614499C3281044OMIM17332340603454
HP:0001249HP:0001249Intellectual disability0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0001249HP:0001249Intellectual disability0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001249HP:0001249Intellectual disability0CRKL CL E G H1399261330ORPHA1163762363602007
HP:0001249HP:0001249Intellectual disability0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0001249HP:0001249Intellectual disability0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12725726193611654
HP:0001249HP:0001249Intellectual disability0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12725726193611654
HP:0001249HP:0001249Intellectual disability0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0001249HP:0001249Intellectual disability0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0001249HP:0001249Intellectual disability0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0001249HP:0001249Intellectual disability0CTSA CL E G H5476351ORPHA1391199251613111
HP:0001249HP:0001249Intellectual disability0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001249HP:0001249Intellectual disability0CUX2 CL E G H233162382ORPHA134819347610648
HP:0001249HP:0001249Intellectual disability0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0001249HP:0001249Intellectual disability0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM155325613616120
HP:0001249HP:0001249Intellectual disability0CXorf56 CL E G H63932777Arthrogryposis multiplex congenitaC0003886ORPHA1116626239301012
HP:0001249HP:0001249Intellectual disability0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM1116626239301012
HP:0001249HP:0001249Intellectual disability0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0001249HP:0001249Intellectual disability0CYFIP2 CL E G H26999442835ORPHA134213760606323
HP:0001249HP:0001249Intellectual disability0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593909ORPHA11163032605606530
HP:0001249HP:0001249Intellectual disability0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0001249HP:0001249Intellectual disability0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13329928358609186
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605899ORPHA1113012666128239
HP:0001249HP:0001249Intellectual disability0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM1113012666128239
HP:0001249HP:0001249Intellectual disability0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1783402698248610
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H800673464ORPHA11817525784612515
HP:0001249HP:0001249Intellectual disability0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11817525784612515
HP:0001249HP:0001249Intellectual disability0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM1411232701120470
HP:0001249HP:0001249Intellectual disability0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001249HP:0001249Intellectual disability0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259320380ORPHA11915229106615003
HP:0001249HP:0001249Intellectual disability0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM11915229106615003
HP:0001249HP:0001249Intellectual disability0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654457260ORPHA1783372745300160
HP:0001249HP:0001249Intellectual disability0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM1783372745300160
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H834792919ORPHA163425360615464
HP:0001249HP:0001249Intellectual disability0DDX59 CL E G H83479174300Orofaciodigital syndrome 5174300C1868118OMIM163425360615464
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM11712914677602635
HP:0001249HP:0001249Intellectual disability0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM11712914677602635
HP:0001249HP:0001249Intellectual disability0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0001249HP:0001249Intellectual disability0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947442835ORPHA1812220603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0001249HP:0001249Intellectual disability0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0001249HP:0001249Intellectual disability0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM162416716616423
HP:0001249HP:0001249Intellectual disability0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0001249HP:0001249Intellectual disability0DIP2B CL E G H57609136630Mental retardation, fra12a type136630C1969893OMIM133529284611379
HP:0001249HP:0001249Intellectual disability0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0001249HP:0001249Intellectual disability0DISP1 CL E G H84976280200ORPHA11110019711607502
HP:0001249HP:0001249Intellectual disability0DKC1 CL E G H17363322ORPHA1753222890300126
HP:0001249HP:0001249Intellectual disability0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001249HP:0001249Intellectual disability0DLG3 CL E G H1741777Arthrogryposis multiplex congenitaC0003886ORPHA1171962902300189
HP:0001249HP:0001249Intellectual disability0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM1171962902300189
HP:0001249HP:0001249Intellectual disability0DLL1 CL E G H28514280200ORPHA1191322908606582
HP:0001249HP:0001249Intellectual disability0DMD CL E G H1756777Arthrogryposis multiplex congenitaC0003886ORPHA1397037602928300377
HP:0001249HP:0001249Intellectual disability0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM181462939601810
HP:0001249HP:0001249Intellectual disability0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM165530528608977
HP:0001249HP:0001249Intellectual disability0DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001249HP:0001249Intellectual disability0DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H17592382ORPHA1313242972602377
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H1759442835ORPHA1313242972602377
HP:0001249HP:0001249Intellectual disability0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1313242972602377
HP:0001249HP:0001249Intellectual disability0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM1511682978602769
HP:0001249HP:0001249Intellectual disability0DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0001249HP:0001249Intellectual disability0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0001249HP:0001249Intellectual disability0DPAGT1 CL E G H179886309ORPHA1421572995191350
HP:0001249HP:0001249Intellectual disability0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0001249HP:0001249Intellectual disability0DPF2 CL E G H59771465ORPHA19149964601671
HP:0001249HP:0001249Intellectual disability0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0001249HP:0001249Intellectual disability0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0001249HP:0001249Intellectual disability0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111813010126141
HP:0001249HP:0001249Intellectual disability0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001249HP:0001249Intellectual disability0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001249HP:0001249Intellectual disability0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0001249HP:0001249Intellectual disability0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0001249HP:0001249Intellectual disability0DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM1185432698612772
HP:0001249HP:0001249Intellectual disability0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0001249HP:0001249Intellectual disability0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0001249HP:0001249Intellectual disability0DYM CL E G H54808239ORPHA13712421317607461
HP:0001249HP:0001249Intellectual disability0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM17714532961600112
HP:0001249HP:0001249Intellectual disability0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0001249HP:0001249Intellectual disability0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001249HP:0001249Intellectual disability0EED CL E G H87263447ORPHA19493188605984
HP:0001249HP:0001249Intellectual disability0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0001249HP:0001249Intellectual disability0EEF1A2 CL E G H1917442835ORPHA1122603192602959
HP:0001249HP:0001249Intellectual disability0EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001249HP:0001249Intellectual disability0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0001249HP:0001249Intellectual disability0EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0001249HP:0001249Intellectual disability0EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0001249HP:0001249Intellectual disability0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0001249HP:0001249Intellectual disability0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0001249HP:0001249Intellectual disability0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA152017233606421
HP:0001249HP:0001249Intellectual disability0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0001249HP:0001249Intellectual disability0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0001249HP:0001249Intellectual disability0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0001249HP:0001249Intellectual disability0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16533363601752
HP:0001249HP:0001249Intellectual disability0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001249HP:0001249Intellectual disability0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0001249HP:0001249Intellectual disability0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM1201223435133510
HP:0001249HP:0001249Intellectual disability0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0001249HP:0001249Intellectual disability0ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001249HP:0001249Intellectual disability0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0001249HP:0001249Intellectual disability0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0001249HP:0001249Intellectual disability0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0001249HP:0001249Intellectual disability0ERLIN2 CL E G H11160209951ORPHA1151031356611605
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H1575703103ORPHA13121527230609353
HP:0001249HP:0001249Intellectual disability0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0001249HP:0001249Intellectual disability0ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0001249HP:0001249Intellectual disability0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13712723287608451
HP:0001249HP:0001249Intellectual disability0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15324093512608177
HP:0001249HP:0001249Intellectual disability0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0001249HP:0001249Intellectual disability0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212903519601653
HP:0001249HP:0001249Intellectual disability0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0001249HP:0001249Intellectual disability0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0001249HP:0001249Intellectual disability0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001249HP:0001249Intellectual disability0FA2H CL E G H79152171629ORPHA15419421197611026
HP:0001249HP:0001249Intellectual disability0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM15419421197611026
HP:0001249HP:0001249Intellectual disability0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11219124587610531
HP:0001249HP:0001249Intellectual disability0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0001249HP:0001249Intellectual disability0FANCA CL E G H217584ORPHA168917063582607139
HP:0001249HP:0001249Intellectual disability0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0001249HP:0001249Intellectual disability0FANCB CL E G H218784ORPHA1213523583300515
HP:0001249HP:0001249Intellectual disability0FANCB CL E G H21873412ORPHA1213523583300515
HP:0001249HP:0001249Intellectual disability0FANCC CL E G H217684ORPHA1658823584613899
HP:0001249HP:0001249Intellectual disability0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0001249HP:0001249Intellectual disability0FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001249HP:0001249Intellectual disability0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0001249HP:0001249Intellectual disability0FANCE CL E G H217884ORPHA1172013586613976
HP:0001249HP:0001249Intellectual disability0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0001249HP:0001249Intellectual disability0FANCF CL E G H218884ORPHA1162023587613897
HP:0001249HP:0001249Intellectual disability0FANCG CL E G H218984ORPHA1923253588602956
HP:0001249HP:0001249Intellectual disability0FANCI CL E G H5521584ORPHA14552125568611360
HP:0001249HP:0001249Intellectual disability0FANCL CL E G H5512084ORPHA12417620748608111
HP:0001249HP:0001249Intellectual disability0FANCM CL E G H5769784ORPHA15369723168609644
HP:0001249HP:0001249Intellectual disability0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001249HP:0001249Intellectual disability0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0001249HP:0001249Intellectual disability0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001249HP:0001249Intellectual disability0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0001249HP:0001249Intellectual disability0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0001249HP:0001249Intellectual disability0FBXO31 CL E G H79791615979Mental retardation, autosomal recessive 45615979C4014864OMIM138216510609102
HP:0001249HP:0001249Intellectual disability0FGF12 CL E G H2257442835ORPHA110743668601513
HP:0001249HP:0001249Intellectual disability0FGF8 CL E G H2253280200ORPHA141543686600483
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H2260280200ORPHA12653883688136350
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0001249HP:0001249Intellectual disability0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR2 CL E G H2263609579Scaphocephaly, maxillary retrusion, and mental retardation609579C1865070OMIM11593363689176943
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0001249HP:0001249Intellectual disability0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H79147899ORPHA114140217997606596
HP:0001249HP:0001249Intellectual disability0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H2218899ORPHA1594503622607440
HP:0001249HP:0001249Intellectual disability0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0001249HP:0001249Intellectual disability0FLI1 CL E G H2313851Bellini Chiumello Rimoldi syndromeORPHA171253749193067
HP:0001249HP:0001249Intellectual disability0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0001249HP:0001249Intellectual disability0FLII CL E G H2314819ORPHA121533750600362
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H231690652ORPHA127114723754300017
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0001249HP:0001249Intellectual disability0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0001249HP:0001249Intellectual disability0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0001249HP:0001249Intellectual disability0FLVCR1 CL E G H2898288628ORPHA11725524682609144
HP:0001249HP:0001249Intellectual disability0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM1916414074606373
HP:0001249HP:0001249Intellectual disability0FOLR1 CL E G H2348613068Cerebral folate deficiency613068C2751584OMIM1281153791136430
HP:0001249HP:0001249Intellectual disability0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0001249HP:0001249Intellectual disability0FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA131483806602617
HP:0001249HP:0001249Intellectual disability0FOXG1 CL E G H22903095ORPHA11693573811164874
HP:0001249HP:0001249Intellectual disability0FOXH1 CL E G H8928280200ORPHA1331883814603621
HP:0001249HP:0001249Intellectual disability0FOXI1 CL E G H2299274600Pendred's syndrome274600C0271829OMIM111833815601093
HP:0001249HP:0001249Intellectual disability0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0001249HP:0001249Intellectual disability0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0001249HP:0001249Intellectual disability0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM121193954601278
HP:0001249HP:0001249Intellectual disability0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0001249HP:0001249Intellectual disability0FRMPD4 CL E G H9758777Arthrogryposis multiplex congenitaC0003886ORPHA1626529007300838
HP:0001249HP:0001249Intellectual disability0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0001249HP:0001249Intellectual disability0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0001249HP:0001249Intellectual disability0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0001249HP:0001249Intellectual disability0FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM1152033974606806
HP:0001249HP:0001249Intellectual disability0FTSJ1 CL E G H24140777Arthrogryposis multiplex congenitaC0003886ORPHA11020613254300499
HP:0001249HP:0001249Intellectual disability0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0001249HP:0001249Intellectual disability0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM15284019602589
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H95683095ORPHA182094507607340
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM182094507607340
HP:0001249HP:0001249Intellectual disability0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM182094507607340
HP:0001249HP:0001249Intellectual disability0GABRA1 CL E G H2554615744Epileptic encephalopathy, early infantile, 19615744C3810400OMIM1483364075137160
HP:0001249HP:0001249Intellectual disability0GABRB2 CL E G H2561442835ORPHA1162124082600232
HP:0001249HP:0001249Intellectual disability0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1162124082600232
HP:0001249HP:0001249Intellectual disability0GABRB3 CL E G H25622382ORPHA1675264083137192
HP:0001249HP:0001249Intellectual disability0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1675264083137192
HP:0001249HP:0001249Intellectual disability0GABRD CL E G H25631606ORPHA172784084137163
HP:0001249HP:0001249Intellectual disability0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM171024092605363
HP:0001249HP:0001249Intellectual disability0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0001249HP:0001249Intellectual disability0GALT CL E G H259279239ORPHA13375554135606999
HP:0001249HP:0001249Intellectual disability0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0001249HP:0001249Intellectual disability0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM1602744136601240
HP:0001249HP:0001249Intellectual disability0GAN CL E G H8139643ORPHA1804354137605379
HP:0001249HP:0001249Intellectual disability0GAS1 CL E G H2619280200ORPHA16424165139185
HP:0001249HP:0001249Intellectual disability0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0001249HP:0001249Intellectual disability0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA1851724174601656
HP:0001249HP:0001249Intellectual disability0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM1222124175602360
HP:0001249HP:0001249Intellectual disability0GBE1 CL E G H2632206583ORPHA1742314180607839
HP:0001249HP:0001249Intellectual disability0GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM18484704195138079
HP:0001249HP:0001249Intellectual disability0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM121054208238330
HP:0001249HP:0001249Intellectual disability0GDI1 CL E G H2664777Arthrogryposis multiplex congenitaC0003886ORPHA1122524226300104
HP:0001249HP:0001249Intellectual disability0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM1122524226300104
HP:0001249HP:0001249Intellectual disability0GGT1 CL E G H2678231950gamma-Glutamyltransferase deficiency231950C0268524OMIM11904250612346
HP:0001249HP:0001249Intellectual disability0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0001249HP:0001249Intellectual disability0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM1373504279121013
HP:0001249HP:0001249Intellectual disability0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM1633474281600897
HP:0001249HP:0001249Intellectual disability0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001249HP:0001249Intellectual disability0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0001249HP:0001249Intellectual disability0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14267854313238300
HP:0001249HP:0001249Intellectual disability0GLI2 CL E G H2736280200ORPHA1883724318165230
HP:0001249HP:0001249Intellectual disability0GLUD1 CL E G H2746606762Hyperinsulinism-hyperammonemia syndrome606762C1847555OMIM1381434335138130
HP:0001249HP:0001249Intellectual disability0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001249HP:0001249Intellectual disability0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0001249HP:0001249Intellectual disability0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM1127422923615495
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H29925363623ORPHA14915122932615320
HP:0001249HP:0001249Intellectual disability0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14915122932615320
HP:0001249HP:0001249Intellectual disability0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM1351544389139311
HP:0001249HP:0001249Intellectual disability0GNAQ CL E G H27763205LBWD syndromeORPHA16584390600998
HP:0001249HP:0001249Intellectual disability0GNAQ CL E G H2776185300Sturge-Weber syndrome185300C0038505OMIM16584390600998
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H277879444ORPHA12792164392139320
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H277879443ORPHA12792164392139320
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0001249HP:0001249Intellectual disability0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0001249HP:0001249Intellectual disability0GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001249HP:0001249Intellectual disability0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM1241844396139380
HP:0001249HP:0001249Intellectual disability0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM110474401604447
HP:0001249HP:0001249Intellectual disability0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0001249HP:0001249Intellectual disability0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM118846229670607840
HP:0001249HP:0001249Intellectual disability0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0001249HP:0001249Intellectual disability0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM11610825676607983
HP:0001249HP:0001249Intellectual disability0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0001249HP:0001249Intellectual disability0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142454458172400
HP:0001249HP:0001249Intellectual disability0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM11164539607468
HP:0001249HP:0001249Intellectual disability0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA1105818062138210
HP:0001249HP:0001249Intellectual disability0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM1105818062138210
HP:0001249HP:0001249Intellectual disability0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM1242434573305915
HP:0001249HP:0001249Intellectual disability0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0001249HP:0001249Intellectual disability0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM17844580138244
HP:0001249HP:0001249Intellectual disability0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0001249HP:0001249Intellectual disability0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM11076294586138252
HP:0001249HP:0001249Intellectual disability0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM11076294586138252
HP:0001249HP:0001249Intellectual disability0GRIN2D CL E G H2906442835ORPHA12774588602717
HP:0001249HP:0001249Intellectual disability0GRM1 CL E G H2911324262ORPHA1201184593604473
HP:0001249HP:0001249Intellectual disability0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201184593604473
HP:0001249HP:0001249Intellectual disability0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM140884624601002
HP:0001249HP:0001249Intellectual disability0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0001249HP:0001249Intellectual disability0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0001249HP:0001249Intellectual disability0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0001249HP:0001249Intellectual disability0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0001249HP:0001249Intellectual disability0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0001249HP:0001249Intellectual disability0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0001249HP:0001249Intellectual disability0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0001249HP:0001249Intellectual disability0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0001249HP:0001249Intellectual disability0HACE1 CL E G H57531464282ORPHA1136321033610876
HP:0001249HP:0001249Intellectual disability0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1136321033610876
HP:0001249HP:0001249Intellectual disability0HADH CL E G H3033609975Hyperinsulinemic hypoglycemia, familial, 4609975C1864948OMIM126944799601609
HP:0001249HP:0001249Intellectual disability0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0001249HP:0001249Intellectual disability0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0001249HP:0001249Intellectual disability0HCFC1 CL E G H3054777Arthrogryposis multiplex congenitaC0003886ORPHA1184864839300019
HP:0001249HP:0001249Intellectual disability0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0001249HP:0001249Intellectual disability0HCN1 CL E G H348980442835ORPHA1402854845602780
HP:0001249HP:0001249Intellectual disability0HCN1 CL E G H348980615871Epileptic encephalopathy, early infantile, 24615871C4014531OMIM1402854845602780
HP:0001249HP:0001249Intellectual disability0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0001249HP:0001249Intellectual disability0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0001249HP:0001249Intellectual disability0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0001249HP:0001249Intellectual disability0HELLS CL E G H30702268ORPHA16514861603946
HP:0001249HP:0001249Intellectual disability0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12817626361611642
HP:0001249HP:0001249Intellectual disability0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0001249HP:0001249Intellectual disability0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM164824868605837
HP:0001249HP:0001249Intellectual disability0HESX1 CL E G H8820226307ORPHA127464877601802
HP:0001249HP:0001249Intellectual disability0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0001249HP:0001249Intellectual disability0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001249HP:0001249Intellectual disability0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0001249HP:0001249Intellectual disability0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM154718142220
HP:0001249HP:0001249Intellectual disability0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0001249HP:0001249Intellectual disability0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0001249HP:0001249Intellectual disability0HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0001249HP:0001249Intellectual disability0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0001249HP:0001249Intellectual disability0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM14355028605238
HP:0001249HP:0001249Intellectual disability0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001249HP:0001249Intellectual disability0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0001249HP:0001249Intellectual disability0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM1683215048602869
HP:0001249HP:0001249Intellectual disability0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32653071ORPHA1342955173190020
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0001249HP:0001249Intellectual disability0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342955173190020
HP:0001249HP:0001249Intellectual disability0HSD17B10 CL E G H302885295ORPHA1171794800300256
HP:0001249HP:0001249Intellectual disability0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0001249HP:0001249Intellectual disability0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0001249HP:0001249Intellectual disability0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0001249HP:0001249Intellectual disability0HUWE1 CL E G H10075300706Mental retardation, X-linked, syndromic, turner type300706C2678046OMIM15442930892300697
HP:0001249HP:0001249Intellectual disability0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1212226558610693
HP:0001249HP:0001249Intellectual disability0HYMAI CL E G H5706199886ORPHA1155326606546
HP:0001249HP:0001249Intellectual disability0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM1155330600709
HP:0001249HP:0001249Intellectual disability0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0001249HP:0001249Intellectual disability0IDUA CL E G H342593473ORPHA12916225391252800
HP:0001249HP:0001249Intellectual disability0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0001249HP:0001249Intellectual disability0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12828618873606951
HP:0001249HP:0001249Intellectual disability0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H26160110ORPHA12726930391607386
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0001249HP:0001249Intellectual disability0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0001249HP:0001249Intellectual disability0IFT27 CL E G H11020110ORPHA145218626615870
HP:0001249HP:0001249Intellectual disability0IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM145218626615870
HP:0001249HP:0001249Intellectual disability0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0001249HP:0001249Intellectual disability0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0001249HP:0001249Intellectual disability0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0001249HP:0001249Intellectual disability0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0001249HP:0001249Intellectual disability0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0001249HP:0001249Intellectual disability0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0001249HP:0001249Intellectual disability0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0001249HP:0001249Intellectual disability0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0001249HP:0001249Intellectual disability0IL1RAPL1 CL E G H11141777Arthrogryposis multiplex congenitaC0003886ORPHA1422735996300206
HP:0001249HP:0001249Intellectual disability0IMPA1 CL E G H3612617323Mental retardation, autosomal recessive 59617323C4310619OMIM12376050602064
HP:0001249HP:0001249Intellectual disability0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0001249HP:0001249Intellectual disability0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H56623220493ORPHA15432521474613037
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15432521474613037
HP:0001249HP:0001249Intellectual disability0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0001249HP:0001249Intellectual disability0INPP5K CL E G H51763559ORPHA11013633882607875
HP:0001249HP:0001249Intellectual disability0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H23096217377ORPHA15753929059300522
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H23096777Arthrogryposis multiplex congenitaC0003886ORPHA15753929059300522
HP:0001249HP:0001249Intellectual disability0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0001249HP:0001249Intellectual disability0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1114514282611720
HP:0001249HP:0001249Intellectual disability0ISPD CL E G H729920899ORPHA147537276614631
HP:0001249HP:0001249Intellectual disability0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1103706143600536
HP:0001249HP:0001249Intellectual disability0ITGB6 CL E G H36942850ORPHA17606161147558
HP:0001249HP:0001249Intellectual disability0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA1955016180147265
HP:0001249HP:0001249Intellectual disability0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0001249HP:0001249Intellectual disability0IYD CL E G H38943495716ORPHA154621071612025
HP:0001249HP:0001249Intellectual disability0IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM154621071612025
HP:0001249HP:0001249Intellectual disability0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM11139219309607704
HP:0001249HP:0001249Intellectual disability0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0001249HP:0001249Intellectual disability0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0001249HP:0001249Intellectual disability0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0001249HP:0001249Intellectual disability0KCNA2 CL E G H3737442835ORPHA1211296220176262
HP:0001249HP:0001249Intellectual disability0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM1211296220176262
HP:0001249HP:0001249Intellectual disability0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0001249HP:0001249Intellectual disability0KCNB1 CL E G H3745442835ORPHA1302786231600397
HP:0001249HP:0001249Intellectual disability0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112946235176264
HP:0001249HP:0001249Intellectual disability0KCNH1 CL E G H37563473MeningoencephaloceleORPHA113916250603305
HP:0001249HP:0001249Intellectual disability0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H3766274600Pendred's syndrome274600C0271829OMIM1332336256602208
HP:0001249HP:0001249Intellectual disability0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1332336256602208
HP:0001249HP:0001249Intellectual disability0KCNJ11 CL E G H376799886ORPHA11872276257600937
HP:0001249HP:0001249Intellectual disability0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM12656283605874
HP:0001249HP:0001249Intellectual disability0KCNQ2 CL E G H3785439218ORPHA131410566296602235
HP:0001249HP:0001249Intellectual disability0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM131410566296602235
HP:0001249HP:0001249Intellectual disability0KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM16416299607357
HP:0001249HP:0001249Intellectual disability0KCTD7 CL E G H154881263516ORPHA12124821957611725
HP:0001249HP:0001249Intellectual disability0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM12124821957611725
HP:0001249HP:0001249Intellectual disability0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0001249HP:0001249Intellectual disability0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA1229068616650
HP:0001249HP:0001249Intellectual disability0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA13115519960610178
HP:0001249HP:0001249Intellectual disability0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001249HP:0001249Intellectual disability0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0001249HP:0001249Intellectual disability0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0001249HP:0001249Intellectual disability0KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0001249HP:0001249Intellectual disability0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0001249HP:0001249Intellectual disability0KIF11 CL E G H38322526ORPHA1701726388148760
HP:0001249HP:0001249Intellectual disability0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM1167719181611279
HP:0001249HP:0001249Intellectual disability0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0001249HP:0001249Intellectual disability0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0001249HP:0001249Intellectual disability0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM1216313339300521
HP:0001249HP:0001249Intellectual disability0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001249HP:0001249Intellectual disability0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0001249HP:0001249Intellectual disability0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0001249HP:0001249Intellectual disability0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0001249HP:0001249Intellectual disability0KLLN CL E G H100144748201ORPHA1823837212612105
HP:0001249HP:0001249Intellectual disability0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0001249HP:0001249Intellectual disability0KMT2C CL E G H58508617768KLEEFSTRA SYNDROME 2617768C4540395OMIM13829413726606833
HP:0001249HP:0001249Intellectual disability0KMT2D CL E G